ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.49CTG[8] (p.Leu21_Leu22dup)

dbSNP: rs745520533
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000535996 SCV000576643 benign not provided 2020-06-23 criteria provided, single submitter clinical testing
Invitae RCV001837929 SCV000659293 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000535996 SCV001133413 benign not provided 2018-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356800 SCV002660502 likely benign Cardiovascular phenotype 2018-09-30 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000535996 SCV004562132 likely benign not provided 2023-11-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535543 SCV004743613 likely benign APOB-related disorder 2019-03-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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