ClinVar Miner

Submissions for variant NM_005502.4(ABCA1):c.2543-3C>T

gnomAD frequency: 0.00159  dbSNP: rs139457469
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002171654 SCV002479912 likely benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427712 SCV002740602 likely benign Cardiovascular phenotype 2020-03-24 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.
New York Genome Center RCV003228056 SCV003925358 uncertain significance Hypoalphalipoproteinemia, primary, 1; Tangier disease 2022-04-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331325 SCV004038423 uncertain significance not specified 2023-08-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543904 SCV004766261 likely benign ABCA1-related disorder 2019-12-11 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).

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