Submissions for variant NM_000384.3(APOB):c.751G>A (p.Ala251Thr)

gnomAD frequency: 0.00190  dbSNP: rs61741625

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001837918	SCV000554794	benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001172132	SCV000720984	likely benign	not provided	2019-11-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000606455	SCV000857803	likely benign	not specified	2017-11-17	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000771162	SCV000903043	likely benign	Familial hypercholesterolemia	2018-01-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001172132	SCV001335090	likely benign	not provided	2020-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002393179	SCV002671944	likely benign	Cardiovascular phenotype	2017-09-14	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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001172132	SCV004218910	benign	not provided	2023-07-26	criteria provided, single submitter	clinical testing
GENinCode PLC	RCV000771162	SCV005074075	benign	Familial hypercholesterolemia	2024-05-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004533208	SCV004753167	likely benign	APOB-related disorder	2023-06-14	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).