ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.134C>G (p.Pro45Arg)

gnomAD frequency: 0.00001  dbSNP: rs199583685
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001081208 SCV000285486 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000236098 SCV000292704 likely benign not provided 2021-01-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22683710, 29338689)
Ambry Genetics RCV001011022 SCV001171299 likely benign Hereditary cancer-predisposing syndrome 2020-08-03 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.
Sema4, Sema4 RCV001011022 SCV002534140 likely benign Hereditary cancer-predisposing syndrome 2021-02-10 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV003998847 SCV004815810 likely benign Von Hippel-Lindau syndrome 2023-12-01 criteria provided, single submitter clinical testing

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