ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10808A>G (p.His3603Arg)

gnomAD frequency: 0.00001  dbSNP: rs370481987
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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 RCV002524931 SCV003487656 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023443 SCV005035053 likely benign Cardiovascular phenotype 2024-03-14 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.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508701 SCV000605954 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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