Submissions for variant NM_001145809.2(MYH14):c.5041G>A (p.Glu1681Lys)

dbSNP: rs556548077

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000269098	SCV000414447	likely benign	Autosomal dominant nonsyndromic hearing loss 4A	2018-01-12	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000626115	SCV000746742	uncertain significance	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	2017-12-18	criteria provided, single submitter	clinical testing
Invitae	RCV000903989	SCV001048482	likely benign	not provided	2018-04-30	criteria provided, single submitter	clinical testing