Submissions for variant NM_002471.4(MYH6):c.2430-14C>T

gnomAD frequency: 0.00108  dbSNP: rs190342289

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154761	SCV000204441	likely benign	not specified	2014-06-30	criteria provided, single submitter	clinical testing	c.2430-14C>T in intron 20 of MYH6: This variant is not expected to have clinical significance because a C>T change at this position does not diverge from the sp lice consensus sequence and is therefore unlikely to impact splicing. It has bee n identified in 0.2% (11/4406) of African American chromosomes by the NHLBI Exom e Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs190342289).
GeneDx	RCV000154761	SCV000718972	likely benign	not specified	2017-05-01	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	RCV002056059	SCV002402433	benign	Hypertrophic cardiomyopathy 14	2024-01-09	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000154761	SCV001925376	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000154761	SCV001931413	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723723	SCV001957150	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004544412	SCV004760971	likely benign	MYH6-related disorder	2021-03-19	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).