ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.45G>A (p.Ala15=)

dbSNP: rs563813895
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000631304 SCV000752332 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2023-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334058 SCV002639969 likely benign Hereditary cancer-predisposing syndrome 2022-03-06 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.
All of Us Research Program, National Institutes of Health RCV004002812 SCV004841630 likely benign Von Hippel-Lindau syndrome 2023-06-26 criteria provided, single submitter clinical testing

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