Submissions for variant NM_015627.3(LDLRAP1):c.432C>T (p.His144=)

gnomAD frequency: 0.00064  dbSNP: rs200840583

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000644530	SCV000766229	benign	Hypercholesterolemia, familial, 4	2025-01-22	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001264559	SCV001442768	likely benign	not specified	2020-10-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002331196	SCV002629830	likely benign	Cardiovascular phenotype	2018-07-12	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	RCV000644530	SCV004173995	likely benign	Hypercholesterolemia, familial, 4	2023-04-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004711263	SCV005263457	likely benign	not provided		criteria provided, single submitter	not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000644530	SCV005879081	likely benign	Hypercholesterolemia, familial, 4	2024-04-29	criteria provided, single submitter	clinical testing