ClinVar Miner

Submissions for variant NM_000252.2(MTM1):c.1260+3G>A (rs222410)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000604124 SCV000734749 benign Severe X-linked myotubular myopathy no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078428 SCV000110281 benign not specified 2015-07-10 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.
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,Partners HealthCare 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 RCV000078428 SCV000303170 benign not specified 2016-03-04 criteria provided, single submitter clinical testing

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