Submissions for variant NM_000384.3(APOB):c.2047G>T (p.Ala683Ser)

gnomAD frequency: 0.00004  dbSNP: rs761947252

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001838273	SCV001010194	likely benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2024-01-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002416030	SCV002728152	benign	Cardiovascular phenotype	2022-04-05	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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	RCV001838273	SCV002807512	likely benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2021-08-16	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003736928	SCV004563326	likely benign	not provided	2023-09-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003948148	SCV004757632	likely benign	APOB-related condition	2022-04-01	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).