ClinVar Miner

Submissions for variant NM_022437.3(ABCG8):c.384G>A (p.Lys128=)

gnomAD frequency: 0.00016  dbSNP: rs764690028
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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 RCV002201668 SCV002494372 likely benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363716 SCV002623659 likely benign Cardiovascular phenotype 2019-09-16 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.
Fulgent Genetics, Fulgent Genetics RCV002500438 SCV002809467 likely benign Gallbladder disease 4; Sitosterolemia 1 2021-10-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331330 SCV004038849 likely benign not specified 2023-08-01 criteria provided, single submitter clinical testing

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