Submissions for variant NM_000256.3(MYBPC3):c.1790+7G>A

gnomAD frequency: 0.00003  dbSNP: rs374852831

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035434	SCV000059082	benign	not specified	2015-04-29	criteria provided, single submitter	clinical testing	c.1790+7G>A in intron 18 of MYBPC3: This variant is not expected to have clinica l significance because it is not located within the splice consensus sequence. I t has been identified in 1.9% (153/7952) of South Asian chromosomes including fo ur homozygous individuals by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org/; dbSNP rs374852831).
Eurofins Ntd Llc (ga)	RCV000035434	SCV000226725	benign	not specified	2015-02-05	criteria provided, single submitter	clinical testing
Invitae	RCV000198260	SCV000252658	benign	Hypertrophic cardiomyopathy	2024-01-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000605114	SCV001263229	likely benign	Hypertrophic cardiomyopathy 4	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV001106190	SCV001263230	likely benign	Left ventricular noncompaction 10	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV001610311	SCV001832977	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000605114	SCV000733046	likely benign	Hypertrophic cardiomyopathy 4		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000035434	SCV001925508	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001610311	SCV001971932	likely benign	not provided		no assertion criteria provided	clinical testing