Submissions for variant NM_000527.5(LDLR):c.1060+7=

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000218339	SCV000269222	benign	not specified	2016-03-06	criteria provided, single submitter	clinical testing	1060+7T>C in intron 7 of LDLR: This variant is not expected to have clinical sig nificance because it is not located within the conserved splice consensus sequen ce. It has been identified in 100.0% (492/492) of African chromosomes from a bro ad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov/projects/ SNP; dbSNP rs2738442).
PreventionGenetics, part of Exact Sciences	RCV000218339	SCV000304680	benign	not specified		criteria provided, single submitter	clinical testing
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	RCV000256309	SCV000322927	uncertain significance	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research	0/190 non-FH alleles
Illumina Laboratory Services, Illumina	RCV000256309	SCV000410529	benign	Hypercholesterolemia, familial, 1	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000218339	SCV000513477	benign	not specified	2016-09-28	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	RCV000256309	SCV000588546	uncertain significance	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research
Color Diagnostics, LLC DBA Color Health	RCV000256309	SCV000689756	benign	Hypercholesterolemia, familial, 1	2017-06-22	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712212	SCV000842650	benign	not provided	2017-09-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001520673	SCV001729837	benign	Familial hypercholesterolemia	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000256309	SCV001737995	benign	Hypercholesterolemia, familial, 1	2021-06-10	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000712212	SCV002049412	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	RCV000256309	SCV000606305	benign	Hypercholesterolemia, familial, 1		no assertion criteria provided	research
Clinical Genetics, Academic Medical Center	RCV000218339	SCV001924137	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000218339	SCV001963588	benign	not specified		no assertion criteria provided	clinical testing