Submissions for variant NM_000527.5(LDLR):c.531G>A (p.Ser177=)

gnomAD frequency: 0.00001  dbSNP: rs555158224

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080091	SCV000752441	likely benign	Familial hypercholesterolemia	2025-01-29	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001080091	SCV001341922	likely benign	Familial hypercholesterolemia	2019-10-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002350129	SCV002646801	likely benign	Cardiovascular phenotype	2020-03-11	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	RCV000508745	SCV004820176	likely benign	Hypercholesterolemia, familial, 1	2024-02-05	criteria provided, single submitter	clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	RCV000508745	SCV000606149	benign	Hypercholesterolemia, familial, 1		no assertion criteria provided	research