Submissions for variant NM_016239.4(MYO15A):c.5826-12A>C

gnomAD frequency: 0.76256  dbSNP: rs854778

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038974	SCV000062652	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	5826-12A>C in Intron 24 of MYO15A: This variant is not expected to have clinical significance because it has been identified in 24.7% (1665/6752) of European Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs854778).
PreventionGenetics, part of Exact Sciences	RCV000038974	SCV000312649	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000606594	SCV000401160	benign	Autosomal recessive nonsyndromic hearing loss 3	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	RCV001636627	SCV001851153	benign	not provided	2018-06-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000606594	SCV002015853	benign	Autosomal recessive nonsyndromic hearing loss 3	2021-09-05	criteria provided, single submitter	clinical testing
Invitae	RCV001636627	SCV002401030	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000606594	SCV000733573	benign	Autosomal recessive nonsyndromic hearing loss 3		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000038974	SCV001956687	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000038974	SCV001963919	benign	not specified		no assertion criteria provided	clinical testing