Submissions for variant NM_000527.5(LDLR):c.2390-16G>A

gnomAD frequency: 0.00221  dbSNP: rs183496025

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
LDLR-LOVD, British Heart Foundation	RCV000237498	SCV000295982	likely benign	Hypercholesterolemia, familial, 1	2016-03-25	criteria provided, single submitter	literature only
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	RCV000237498	SCV000599413	likely benign	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000590119	SCV000697228	benign	not provided	2016-01-15	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000776248	SCV000911500	benign	Familial hypercholesterolemia	2017-05-30	criteria provided, single submitter	clinical testing
Invitae	RCV000776248	SCV002333687	benign	Familial hypercholesterolemia	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002450748	SCV002737104	likely benign	Cardiovascular phenotype	2019-06-19	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000237498	SCV000733833	likely benign	Hypercholesterolemia, familial, 1		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699174	SCV001919199	benign	not specified		no assertion criteria provided	clinical testing