ClinVar Miner

Submissions for variant NM_005502.4(ABCA1):c.6018C>T (p.His2006=)

gnomAD frequency: 0.00028  dbSNP: rs367815303
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001280652 SCV001467928 benign not specified 2020-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002357071 SCV002655154 likely benign Cardiovascular phenotype 2019-07-05 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002541751 SCV003246777 likely benign not provided 2024-01-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002541751 SCV005265806 benign not provided criteria provided, single submitter not provided

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