Submissions for variant NM_016239.4(MYO15A):c.1783G>A (p.Ala595Thr)

gnomAD frequency: 0.39950  dbSNP: rs2955365

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000219351	SCV000227448	benign	not specified	2016-01-20	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000219351	SCV000269317	benign	not specified	2015-04-16	criteria provided, single submitter	clinical testing	p.Ala595Thr in exon 2 of MYO15A: This variant is not expected to have clinical s ignificance because it has been identified in 52.9% (41979/79374) of chromosomes across various populations by the Exome Aggregation Consortium (ExAC, http://ex ac.broadinstitute.org; dbSNP rs2955365).
PreventionGenetics, part of Exact Sciences	RCV000219351	SCV000312635	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000606417	SCV000401104	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000606417	SCV000604396	benign	Autosomal recessive nonsyndromic hearing loss 3	2023-11-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000219351	SCV000730607	benign	not specified	2017-05-11	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	RCV000606417	SCV002015846	benign	Autosomal recessive nonsyndromic hearing loss 3	2021-09-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002056945	SCV002405388	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002056945	SCV005248553	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000606417	SCV000733570	benign	Autosomal recessive nonsyndromic hearing loss 3		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000219351	SCV001959608	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000219351	SCV001973981	benign	not specified		no assertion criteria provided	clinical testing