ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.8295A>G (p.Gln2765=)

gnomAD frequency: 0.00004  dbSNP: rs767506952
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001837989 SCV000659301 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-12-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000530814 SCV001133424 benign not provided 2018-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431725 SCV002679204 likely benign Cardiovascular phenotype 2022-07-06 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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