Submissions for variant NM_000257.4(MYH7):c.4170-8C>A

gnomAD frequency: 0.00014  dbSNP: rs199632504

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000158639	SCV000208574	likely benign	not specified	2016-04-06	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	RCV000699498	SCV000828211	likely benign	Hypertrophic cardiomyopathy	2024-01-22	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001180567	SCV001345525	likely benign	Cardiomyopathy	2019-01-07	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492625	SCV002799923	likely benign	Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy	2021-09-14	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001180567	SCV003838103	uncertain significance	Cardiomyopathy	2021-12-30	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001180567	SCV004822758	likely benign	Cardiomyopathy	2024-02-05	criteria provided, single submitter	clinical testing