Submissions for variant NM_001145809.2(MYH14):c.5573G>A (p.Arg1858His)

gnomAD frequency: 0.00137  dbSNP: rs11882073

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000215776	SCV000270441	likely benign	not specified	2015-05-26	criteria provided, single submitter	clinical testing	p.Arg1858His in exon 40 of MYH14: This variant is not expected to have clinical significance because it has been identified in 0.5% (52/9586) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs11882073).
PreventionGenetics, part of Exact Sciences	RCV000215776	SCV000306876	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000215776	SCV000340848	benign	not specified	2016-05-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756389	SCV000884185	likely benign	not provided	2023-09-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000756389	SCV001111258	benign	not provided	2025-01-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000756389	SCV001773051	likely benign	not provided	2021-01-22	criteria provided, single submitter	clinical testing