ClinVar Miner

Submissions for variant NM_000039.3(APOA1):c.564C>G (p.Ala188=)

dbSNP: rs558064576
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Total submissions: 6
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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 RCV001582342 SCV001821211 benign not specified 2021-08-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002070441 SCV002377041 likely benign not provided 2023-11-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260209 SCV002539387 benign Familial visceral amyloidosis, Ostertag type 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260210 SCV002539388 benign Hypoalphalipoproteinemia, primary, 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260211 SCV002539389 benign Hypoalphalipoproteinemia, primary, 2, intermediate 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343769 SCV002652036 likely benign Cardiovascular phenotype 2022-02-14 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.

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