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

dbSNP: rs745520533

Total submissions: 7

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
Labcorp Genetics (formerly Invitae), Labcorp	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
GENinCode PLC	RCV004584729	SCV005074085	benign	Familial hypercholesterolemia	2023-09-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535543	SCV004743613	likely benign	APOB-related disorder	2019-03-19	no assertion criteria provided	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).