ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.6C>T (p.Pro2=)

dbSNP: rs1014417508
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001395391 SCV001597101 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2022-08-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363426 SCV002665698 likely benign Hereditary cancer-predisposing syndrome 2020-03-31 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.
GeneDx RCV000937631 SCV003840665 uncertain significance not provided 2023-03-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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