ClinVar Miner

Submissions for variant NM_022437.3(ABCG8):c.51C>A (p.Pro17=)

gnomAD frequency: 0.00868  dbSNP: rs72647316
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173522 SCV000224643 benign not specified 2015-03-16 criteria provided, single submitter clinical testing
Invitae RCV000946604 SCV001092748 benign not provided 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000946604 SCV001804967 likely benign not provided 2021-02-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336419 SCV002644356 benign Cardiovascular phenotype 2019-07-16 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000173522 SCV004029671 likely benign not specified 2023-07-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000173522 SCV003839903 likely benign not specified 2022-11-28 no assertion criteria provided clinical testing

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