A VUS in your results? Here is what it actually means.
A Variant of Uncertain Significance is not a diagnosis. It means the evidence is not settled yet. Our team reads your report independently, checks the variant against the criteria clinical laboratories use, and explains in plain language what is known, what is not, and whether a reanalysis could change the classification.
$55USD· Initial screening, online, no appointment
- Independent of the laboratory that issued your report
- Scientific review, not medical care
- Rare disease expertise, more than 25 years
How laboratories classify a variant
- Benign
- Likely benign
- Uncertain significance (VUS)Your result
- Likely pathogenic
- Pathogenic
Uncertain means the evidence is incomplete, not that something is wrong with you.
A Variant of Uncertain Significance is a change in a gene that the laboratory found but could not classify as benign or as disease causing. The evidence available today is not sufficient to place it on either side.
That classification is not permanent. As more people are sequenced and more studies are published, variants move out of the uncertain category. Most move toward benign. A smaller number move toward pathogenic and finally explain a clinical picture that had no answer.
A VUS is not a diagnosis. It is a statement about the limits of today's evidence, and evidence changes.
Read the full patient guide to VUS resultsAn independent reading of your variant, against current standards.
We start from the report you already have and examine the finding ourselves, with no link to the laboratory that issued it.
Independent scientific review
Your variant is re-examined case by case, from several scientific perspectives, by a molecular genetics team that works with rare diseases.
Classification checked against ACMG criteria
We review how the variant stands against the ACMG and AMP criteria and against public evidence such as ClinVar and population frequency databases, and we explain each point in language you can follow.
Reanalysis when the evidence has moved
Literature, gene to disease associations and functional data published since your report can change the picture. We check whether they do, and we say so plainly when they do not.
Three steps, starting with the $55 screening.
There is no free stage. The initial screening is a paid first step, and it is what tells us whether a full in-depth review is worth doing in your case.
- 01
Start your $55 screening
You create your account on our patient platform and pay the $55 initial screening. That payment opens your case.
- 02
Send your report and clinical context
You upload the genetic test report, a short clinical summary and any relevant family history through a secure portal. No appointment and no travel.
- 03
Receive your plain-language report
Our team assesses the finding and writes back what the current evidence supports, and whether a full in-depth reanalysis is warranted in your case.
$55 USD, paid once to open your case. The full in-depth review is a separate stage with its own fee, and you only take it if you decide to.
A written report you can actually read.
Written for you, and detailed enough to hand to the physician who follows your case.
- Your variant explained in plain language: the gene, the change, and what the notation on your report means.
- Its current classification and the evidence behind it, set out criterion by criterion.
- What has been published since your original report, and whether it moves the classification.
- What can realistically be reanalysed, and what today's evidence still cannot resolve.
We do not issue diagnoses, prescribe treatment, or promise that a variant will be reclassified. The report describes what the science currently supports.
Professor Paul Laissue, MD, MSc, PhD
Scientific Director, PLH Genetics
Prof. Paul Laissue and the PLH Genetics scientific team.
Every case is reviewed and validated by Professor Paul Laissue, Scientific Director of PLH Genetics, with more than 25 years of research in molecular genetics, functional genomics and quantitative genetics.
The team works with rare disease findings and applies the international classification standards used by clinical laboratories worldwide, which is what makes a second, independent reading of the same variant meaningful.
- More than 25 years in molecular genetics
- Rare disease focus
- ACMG and AMP classification standards
What people ask us about a VUS
Your result deserves a second, independent reading.
If a VUS has left you without an answer, we can tell you what the current evidence supports and what it does not. Start with the $55 screening.
$55USD· Initial screening
This service provides an independent scientific review of reported genetic findings, for scientific and educational purposes. It does not constitute medical diagnosis, treatment, genetic counselling or medical advice, and it does not establish a physician patient relationship. All clinical decisions remain the responsibility of the treating healthcare professionals. PLH Genetics is a product of SIGNOS LLC.
$55 USD · Initial screening · Online
Start your $55 screening