Submissions for variant NM_001145809.2(MYH14):c.3033+11T>C

gnomAD frequency: 0.86981  dbSNP: rs930086

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037039	SCV000060695	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	3033+11T>C in Intron 24 of MYH14: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence and has been identified in 13.5% (468/3466) of African American chromosome s from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.w ashington.edu/EVS; dbSNP rs930086).
PreventionGenetics, part of Exact Sciences	RCV000037039	SCV000306862	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000293384	SCV000414413	benign	Autosomal dominant nonsyndromic hearing loss 4A	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001668157	SCV001891420	benign	not provided	2018-06-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001775558	SCV002014411	benign	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000293384	SCV002014412	benign	Autosomal dominant nonsyndromic hearing loss 4A	2021-09-05	criteria provided, single submitter	clinical testing
Invitae	RCV001668157	SCV002432404	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037039	SCV001921657	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037039	SCV001957143	benign	not specified		no assertion criteria provided	clinical testing