Submissions for variant NM_001145809.2(MYH14):c.1114+13C>T

gnomAD frequency: 0.32285  dbSNP: rs11666328

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037019	SCV000060675	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	1114+13C>T in Intron 10 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 36.6% (2438/6660) of European American chromoso mes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs .washington.edu/EVS; dbSNP rs11666328).
PreventionGenetics, part of Exact Sciences	RCV000037019	SCV000306850	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000275347	SCV000414381	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	RCV001642559	SCV001857097	benign	not provided	2018-06-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001775552	SCV002014393	benign	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000275347	SCV002014394	benign	Autosomal dominant nonsyndromic hearing loss 4A	2021-09-05	criteria provided, single submitter	clinical testing
Invitae	RCV001642559	SCV002406499	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037019	SCV001922910	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000037019	SCV001962917	benign	not specified		no assertion criteria provided	clinical testing