Submissions for variant NM_033118.4(MYLK2):c.1295+4C>A

gnomAD frequency: 0.00179  dbSNP: rs113936360

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154784	SCV000204464	likely benign	not specified	2017-01-27	criteria provided, single submitter	clinical testing	c.1295+4C>A in intron 9 of MYLK2: This variant is not expected to have clinical significance because it has been identified in 0.7% (75/10378) of African chromo somes, including 1 homozygote, by the Exome Aggregation Consortium (ExAC, http:/ /exac.broadinstitute.org; dbSNP rs113936360).
GeneDx	RCV000154784	SCV000513826	benign	not specified	2015-06-10	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.
Invitae	RCV000461652	SCV000556769	benign	Hypertrophic cardiomyopathy 1	2024-01-28	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000461652	SCV000743432	likely benign	Hypertrophic cardiomyopathy 1	2017-09-15	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170856	SCV001333477	benign	Cardiomyopathy	2017-11-09	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000461652	SCV002049910	benign	Hypertrophic cardiomyopathy 1	2021-01-20	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000154784	SCV002572057	benign	not specified	2022-08-15	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000461652	SCV000734062	likely benign	Hypertrophic cardiomyopathy 1		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001726008	SCV001967537	likely benign	not provided		no assertion criteria provided	clinical testing