Submissions for variant NM_000527.5(LDLR):c.1026C>T (p.Asp342=)

dbSNP: rs780563386

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000869553	SCV001010990	likely benign	Familial hypercholesterolemia	2024-10-15	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000869553	SCV001735427	likely benign	Familial hypercholesterolemia	2021-01-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002381965	SCV002694316	likely benign	Cardiovascular phenotype	2022-10-21	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.
All of Us Research Program, National Institutes of Health	RCV004003045	SCV004820256	likely benign	Hypercholesterolemia, familial, 1	2024-01-11	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000869553	SCV001460264	likely benign	Familial hypercholesterolemia	2020-09-16	no assertion criteria provided	clinical testing