ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.267C>T (p.Leu89=)

dbSNP: rs755794553
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570616 SCV000675800 likely benign Hereditary cancer-predisposing syndrome 2016-04-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000875754 SCV001018225 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2023-12-24 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001178 SCV004822850 likely benign Von Hippel-Lindau syndrome 2023-12-18 criteria provided, single submitter clinical testing

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