Submissions for variant NM_000252.3(MTM1):c.1260+3G>A

gnomAD frequency: 0.58566  dbSNP: rs222410

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078428	SCV000110281	benign	not specified	2015-07-10	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000078428	SCV000193674	likely benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000078428	SCV000269245	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	c.1260+3G>A in intron 11 of MTM1: This variant is not expected to have clinical significance because it has been identified in 49.9% (3355/6728) of European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs222410).
PreventionGenetics, part of Exact Sciences	RCV000078428	SCV000303170	benign	not specified	2016-03-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000078428	SCV000519509	benign	not specified	2016-01-22	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.
Mendelics	RCV000604124	SCV001142041	benign	Severe X-linked myotubular myopathy	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV000604124	SCV001717688	benign	Severe X-linked myotubular myopathy	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000604124	SCV001762631	benign	Severe X-linked myotubular myopathy	2021-07-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002426642	SCV002677400	benign	Inborn genetic diseases	2015-06-22	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000604124	SCV000734749	benign	Severe X-linked myotubular myopathy		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000604124	SCV001462908	benign	Severe X-linked myotubular myopathy	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000078428	SCV001926329	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000078428	SCV001959196	benign	not specified		no assertion criteria provided	clinical testing
GeneReviews	RCV000604124	SCV002769709	not provided	Severe X-linked myotubular myopathy		no assertion provided	literature only