Submissions for variant NM_033118.4(MYLK2):c.1224+8A>C

gnomAD frequency: 0.00006  dbSNP: rs375144075

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151383	SCV000199389	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	1224+8A>C in intron 8 of MYLK2: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence. It ha s been identified in 1/3738 African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
GeneDx	RCV000839200	SCV000981086	likely benign	not provided	2018-05-22	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170855	SCV001333476	benign	Cardiomyopathy	2017-11-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001521370	SCV001730704	benign	Hypertrophic cardiomyopathy 1	2024-11-04	criteria provided, single submitter	clinical testing