ClinVar Miner

Submissions for variant NM_001371904.1(APOA5):c.165C>G (p.Thr55=)

gnomAD frequency: 0.00072  dbSNP: rs138300114
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000960273 SCV001107234 benign not provided 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002400116 SCV002706515 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 RCV003323767 SCV004029778 benign not specified 2023-07-18 criteria provided, single submitter clinical testing

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