Submissions for variant NM_016239.4(MYO15A):c.2152T>G (p.Trp718Gly)

gnomAD frequency: 0.34123  dbSNP: rs2955367

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000216733	SCV000269319	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	Trp718Gly in Exon 02 of MYO15A: This variant is not expected to have clinical si gnificance because it has been identified in 17.8% (619/3482) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs2955367).
PreventionGenetics, part of Exact Sciences	RCV000216733	SCV000312638	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000216733	SCV000331734	benign	not specified	2017-05-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000600893	SCV000401110	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	RCV000216733	SCV000730608	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000600893	SCV001156862	benign	Autosomal recessive nonsyndromic hearing loss 3	2023-11-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000600893	SCV002015848	benign	Autosomal recessive nonsyndromic hearing loss 3	2021-09-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054378	SCV002345021	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002054378	SCV005248555	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000600893	SCV000733572	benign	Autosomal recessive nonsyndromic hearing loss 3		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000216733	SCV001955045	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000216733	SCV001969431	benign	not specified		no assertion criteria provided	clinical testing