ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.12G>A (p.Arg4=)

dbSNP: rs1553619274
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551863 SCV000626881 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2024-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384044 SCV002689831 likely benign Hereditary cancer-predisposing syndrome 2020-11-10 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.
GeneDx RCV004592548 SCV005080342 uncertain significance not provided 2024-03-12 criteria provided, single submitter clinical testing Not observed 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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