ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.340+633T>C

dbSNP: rs2125125904
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001370146 SCV001566612 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2024-01-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004743439 SCV005342147 uncertain significance VHL-related disorder 2024-09-03 no assertion criteria provided clinical testing The VHL c.398T>C variant is predicted to result in the amino acid substitution p.Phe133Ser. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. This variant has an interpretation of likely benign in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/1060684/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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