ClinVar Miner

Submissions for variant NM_022437.3(ABCG8):c.1473A>G (p.Pro491=)

gnomAD frequency: 0.00036  dbSNP: rs146046068
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730444 SCV000858180 uncertain significance not provided 2017-11-16 criteria provided, single submitter clinical testing
Invitae RCV000730444 SCV001119541 likely benign not provided 2023-12-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816799 SCV002068109 uncertain significance not specified 2021-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388364 SCV002697028 likely benign Cardiovascular phenotype 2019-09-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV001816799 SCV004029680 likely benign not specified 2023-07-18 criteria provided, single submitter clinical testing

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