Submissions for variant NM_000527.5(LDLR):c.108C>T (p.Asp36=)

gnomAD frequency: 0.00006  dbSNP: rs373144619

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001181332	SCV001346455	likely benign	Familial hypercholesterolemia	2017-06-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001201281	SCV001372400	likely benign	not specified	2020-06-29	criteria provided, single submitter	clinical testing
Invitae	RCV001181332	SCV001668391	likely benign	Familial hypercholesterolemia	2023-11-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002446987	SCV002734058	likely benign	Cardiovascular phenotype	2019-11-28	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	RCV000508706	SCV004820115	likely benign	Hypercholesterolemia, familial, 1	2023-05-31	criteria provided, single submitter	clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	RCV000508706	SCV000606017	benign	Hypercholesterolemia, familial, 1		no assertion criteria provided	research