ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.297A>C (p.Pro99=)

dbSNP: rs774753107
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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 RCV000524569 SCV000626895 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2023-09-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563656 SCV000675830 likely benign Hereditary cancer-predisposing syndrome 2017-02-22 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 RCV003979945 SCV004788866 likely benign VHL-related disorder 2023-05-17 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).

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