ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.72C>A (p.Gly24=)

dbSNP: rs1375079282
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574961 SCV000675818 likely benign Hereditary cancer-predisposing syndrome 2016-06-04 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 RCV001081534 SCV000752321 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679046 SCV000805361 likely benign not provided 2017-09-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001179 SCV004826309 likely benign Von Hippel-Lindau syndrome 2023-05-30 criteria provided, single submitter clinical testing

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