Submissions for variant NM_001145809.2(MYH14):c.1205A>G (p.Asn402Ser)

gnomAD frequency: 0.00001  dbSNP: rs537153044

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151183	SCV000199008	benign	not specified	2015-05-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000370979	SCV000414383	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000443981	SCV000511064	likely benign	not provided	2017-01-24	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Invitae	RCV000443981	SCV001041346	benign	not provided	2023-12-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000443981	SCV001776608	likely benign	not provided	2020-10-30	criteria provided, single submitter	clinical testing