ClinVar Miner

Submissions for variant NM_005502.4(ABCA1):c.5406C>T (p.Ile1802=)

dbSNP: rs141980942
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002181271 SCV002476287 likely benign not provided 2022-09-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346534 SCV002649293 likely benign Cardiovascular phenotype 2022-03-17 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 RCV003235684 SCV003933808 benign not specified 2023-05-22 criteria provided, single submitter clinical testing

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