Submissions for variant NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu)

gnomAD frequency: 0.00202  dbSNP: rs121908108

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154782	SCV000204462	likely benign	not specified	2017-01-27	criteria provided, single submitter	clinical testing	p.Ala95Glu in exon 3 of MYLK2: This variant is not expected to have clinical sig nificance because it has been identified in 0.8% (75/9276) of African chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbS NP rs121908108).
Eurofins Ntd Llc (ga)	RCV000154782	SCV000229245	likely benign	not specified	2015-04-09	criteria provided, single submitter	clinical testing
GeneDx	RCV001701560	SCV000236026	benign	not provided	2019-08-05	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23299917, 22995991, 11733062, 27884173, 25910212)
Invitae	RCV000467194	SCV000556767	benign	Hypertrophic cardiomyopathy 1	2024-01-28	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170850	SCV001333470	benign	Cardiomyopathy	2019-11-04	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000467194	SCV002049182	benign	Hypertrophic cardiomyopathy 1	2021-01-20	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000154782	SCV002572058	likely benign	not specified	2022-08-15	criteria provided, single submitter	clinical testing
OMIM	RCV000004466	SCV000024639	pathogenic	Cardiomyopathy, hypertrophic, midventricular, digenic	2001-11-30	no assertion criteria provided	literature only
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701560	SCV001931317	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001701560	SCV001951201	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701560	SCV001975838	likely benign	not provided		no assertion criteria provided	clinical testing