Submissions for variant NM_016239.4(MYO15A):c.8088+5C>G

dbSNP: rs9916193

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000221604	SCV000269329	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	8088+5C>G in Intron 43 of MYO15A: This variant is not expected to have clinical significance because it has been identified in 34.7% (1048/3018) of African Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs9916193).
PreventionGenetics, part of Exact Sciences	RCV000221604	SCV000312659	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000263807	SCV000401191	benign	Autosomal recessive nonsyndromic hearing loss 3	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000221604	SCV000714972	benign	not specified	2017-05-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab	RCV000263807	SCV002015859	benign	Autosomal recessive nonsyndromic hearing loss 3	2021-09-05	criteria provided, single submitter	clinical testing
Invitae	RCV002057076	SCV002326299	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000221604	SCV001743796	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000221604	SCV001959638	benign	not specified		no assertion criteria provided	clinical testing