Submissions for variant NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile)

gnomAD frequency: 0.00322  dbSNP: rs55662069

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038293	SCV000061962	benign	not specified	2015-05-14	criteria provided, single submitter	clinical testing	p.Thr845Ile in exon 25 of MYO6: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (266/66676) of European chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs55662069).
Eurofins Ntd Llc (ga)	RCV000038293	SCV000336216	likely benign	not specified	2015-10-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001160926	SCV001322765	uncertain significance	Autosomal recessive nonsyndromic hearing loss 37	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001160927	SCV001322766	benign	Autosomal dominant nonsyndromic hearing loss 22	2017-06-20	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001253835	SCV001429709	likely benign	not provided	2025-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV001253835	SCV001833475	benign	not provided	2019-10-31	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 18212818, 30180840)
CeGaT Center for Human Genetics Tuebingen	RCV001253835	SCV002545434	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	MYO6: BS1
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001253835	SCV001926845	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001253835	SCV001966215	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004534810	SCV004749376	likely benign	MYO6-related disorder	2020-12-10	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).