ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.249C>G (p.Val83=)

gnomAD frequency: 0.00001  dbSNP: rs1271292937
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000537683 SCV000626888 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2023-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV001015756 SCV001176624 likely benign Hereditary cancer-predisposing syndrome 2019-09-19 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.
PreventionGenetics, part of Exact Sciences RCV003960264 SCV004767393 likely benign VHL-related disorder 2019-07-10 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV004003775 SCV004836219 likely benign Von Hippel-Lindau syndrome 2023-12-13 criteria provided, single submitter clinical testing

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