Submissions for variant NM_000384.3(APOB):c.8599C>T (p.Leu2867=)

gnomAD frequency: 0.00006  dbSNP: rs149430596

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001838261	SCV001005661	likely benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2024-12-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002442808	SCV002681327	likely benign	Cardiovascular phenotype	2019-10-03	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.
GENinCode PLC	RCV004820128	SCV005441626	likely benign	Familial hypercholesterolemia	2023-12-05	criteria provided, single submitter	clinical testing	This is a synonymous (silent) variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved. Therefore this variant has been classified as Likely Benign (BP4, BP7).
PreventionGenetics, part of Exact Sciences	RCV004538227	SCV004730212	likely benign	APOB-related disorder	2022-06-21	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).