ClinVar Miner

Submissions for variant NM_022436.3(ABCG5):c.957C>T (p.Ser319=)

gnomAD frequency: 0.00145  dbSNP: rs146131711
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000384289 SCV000344148 uncertain significance not provided 2018-09-13 criteria provided, single submitter clinical testing
Invitae RCV001078882 SCV001028356 benign Sitosterolemia 2024-01-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820836 SCV002067732 likely benign not specified 2018-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379150 SCV002695069 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 RCV001820836 SCV004029663 likely benign not specified 2023-07-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003967794 SCV004780510 likely benign ABCG5-related disorder 2021-03-11 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).
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000384289 SCV001975935 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000384289 SCV001978922 likely benign not provided no assertion criteria provided clinical testing

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