ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.213C>G (p.Pro71=)

dbSNP: rs201663073
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607846 SCV000714521 likely benign not specified 2017-05-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001440207 SCV001643112 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2023-07-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431763 SCV002729232 likely benign Hereditary cancer-predisposing syndrome 2021-04-12 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.

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