Submissions for variant NM_000527.5(LDLR):c.450C>T (p.Pro150=)

gnomAD frequency: 0.00003  dbSNP: rs773365925

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000869698	SCV001011145	likely benign	Familial hypercholesterolemia	2024-01-29	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000869698	SCV001340541	likely benign	Familial hypercholesterolemia	2018-07-20	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001805126	SCV002051368	likely benign	not specified	2021-12-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002341197	SCV002635118	likely benign	Cardiovascular phenotype	2015-06-23	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.
Breakthrough Genomics, Breakthrough Genomics	RCV004704037	SCV005209375	likely benign	not provided		criteria provided, single submitter	not provided
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	RCV000508930	SCV000606122	benign	Hypercholesterolemia, familial, 1		no assertion criteria provided	research