ClinVar Miner

Submissions for variant NM_005502.4(ABCA1):c.2748C>T (p.Val916=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002439317 SCV002749447 likely benign Cardiovascular phenotype 2020-08-21 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 RCV003102170 SCV003277599 benign not provided 2023-05-15 criteria provided, single submitter clinical testing

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