Submissions for variant NM_002471.4(MYH6):c.3342+10T>C

gnomAD frequency: 0.00012  dbSNP: rs552662475

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000220884	SCV000270448	likely benign	not specified	2015-03-24	criteria provided, single submitter	clinical testing	c.3342+10T>C in intron 25 of MYH6: This variant is not expected to have clinical significance because it does not affect the splice consensus sequence. It has been identified in 4/10406 African chromosomes by the Exome Aggregation Consort ium (ExAC, http://exac.broadinstitute.org/).
GeneDx	RCV000220884	SCV000724718	likely benign	not specified	2017-11-17	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	RCV000647078	SCV000768865	likely benign	Hypertrophic cardiomyopathy 14	2024-11-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000220884	SCV005726861	likely benign	not specified	2024-11-10	criteria provided, single submitter	clinical testing