ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.549G>A (p.Ser183=)

gnomAD frequency: 0.00003  dbSNP: rs193922614
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030590 SCV000053267 likely benign Von Hippel-Lindau syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000459500 SCV000563226 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2024-01-06 criteria provided, single submitter clinical testing
GeneDx RCV001703429 SCV000714524 likely benign not provided 2019-02-11 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258781 SCV002534185 likely benign Hereditary cancer-predisposing syndrome 2021-07-30 criteria provided, single submitter curation
Ambry Genetics RCV002258781 SCV002652739 likely benign Hereditary cancer-predisposing syndrome 2020-08-18 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 RCV000030590 SCV004841660 likely benign Von Hippel-Lindau syndrome 2023-11-10 criteria provided, single submitter clinical testing

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