Submissions for variant NM_002471.4(MYH6):c.4959+12C>T

gnomAD frequency: 0.00003  dbSNP: rs371661383

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037522	SCV000061180	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	4959+12C>T in intron 33 of MYH6: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. It h as been identified in 1/7020 European American chromosomes from a broad populati on by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). 49 59+12C>T in intron 33 of MYH6 (allele frequency = 1/7020) **
GeneDx	RCV000037522	SCV000725382	likely benign	not specified	2017-12-06	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.
Invitae	RCV002054666	SCV002471476	likely benign	Hypertrophic cardiomyopathy 14	2023-11-29	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001699023	SCV001926961	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001699023	SCV001958163	likely benign	not provided		no assertion criteria provided	clinical testing