ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9933A>G (p.Arg3311=)

gnomAD frequency: 0.00002  dbSNP: rs760815948
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002497670 SCV002812419 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-09-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002497670 SCV003485062 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163478 SCV003862050 likely benign Cardiovascular phenotype 2023-01-18 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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