Submissions for variant NM_015627.3(LDLRAP1):c.21G>A (p.Ala7=)

dbSNP: rs1397505429

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001494197	SCV001698846	likely benign	Hypercholesterolemia, familial, 4	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003160990	SCV003858135	likely benign	Cardiovascular phenotype	2022-12-06	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.
Genome-Nilou Lab	RCV001494197	SCV004172903	likely benign	Hypercholesterolemia, familial, 4	2023-04-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003966008	SCV004780047	likely benign	LDLRAP1-related disorder	2023-03-06	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).