ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.21C>T (p.Asn7=)

dbSNP: rs1060503561
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610976 SCV000725645 likely benign not specified 2017-12-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000917891 SCV001063184 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2023-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431801 SCV002728125 likely benign Hereditary cancer-predisposing syndrome 2019-10-13 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 RCV004002572 SCV004825594 likely benign Von Hippel-Lindau syndrome 2023-05-16 criteria provided, single submitter clinical testing

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