Submissions for variant NM_000527.5(LDLR):c.660C>T (p.Pro220=)

gnomAD frequency: 0.00005  dbSNP: rs143002616

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000776270	SCV000911542	likely benign	Familial hypercholesterolemia	2018-04-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000776270	SCV001007823	likely benign	Familial hypercholesterolemia	2024-12-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002376947	SCV002667711	likely benign	Cardiovascular phenotype	2019-01-28	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.
CeGaT Center for Human Genetics Tuebingen	RCV003419880	SCV004137805	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	LDLR: BP4, BP7
All of Us Research Program, National Institutes of Health	RCV000508935	SCV004820192	likely benign	Hypercholesterolemia, familial, 1	2023-12-13	criteria provided, single submitter	clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	RCV000508935	SCV000606182	benign	Hypercholesterolemia, familial, 1		no assertion criteria provided	research