ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.39A>G (p.Val13=)

gnomAD frequency: 0.00001  dbSNP: rs996469746
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000952143 SCV001098620 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021614 SCV001183252 likely benign Hereditary cancer-predisposing syndrome 2018-06-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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