Submissions for variant NM_033118.4(MYLK2):c.918C>T (p.Ala306=)

gnomAD frequency: 0.01179  dbSNP: rs41293106

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039794	SCV000063483	benign	not specified	2012-04-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000039794	SCV000170580	benign	not specified	2014-03-10	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000230295	SCV000291173	benign	Hypertrophic cardiomyopathy 1	2025-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000230295	SCV002048986	benign	Hypertrophic cardiomyopathy 1	2023-10-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004716912	SCV005315015	benign	not provided		criteria provided, single submitter	not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030333	SCV000053000	benign	Cardiomyopathy	2015-06-04	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000039794	SCV001930552	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039794	SCV001956946	benign	not specified		no assertion criteria provided	clinical testing