ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.11018A>G (p.Lys3673Arg)

gnomAD frequency: 0.00005  dbSNP: rs374411400
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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 RCV001838161 SCV001420884 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-09-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424770 SCV002741970 likely benign Cardiovascular phenotype 2024-03-29 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.
Fulgent Genetics, Fulgent Genetics RCV001838161 SCV002792889 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-07-22 criteria provided, single submitter clinical testing

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