ClinVar Miner

Submissions for variant NM_022437.3(ABCG8):c.1716C>T (p.Leu572=)

gnomAD frequency: 0.00382  dbSNP: rs116046586
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000974764 SCV001122622 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002400129 SCV002712319 likely benign Cardiovascular phenotype 2022-02-14 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003151258 SCV004029679 likely benign not specified 2023-07-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151258 SCV003839792 likely benign not specified 2022-11-28 no assertion criteria provided clinical testing

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