ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1260+17A>G

gnomAD frequency: 0.00687  dbSNP: rs185258809
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242711 SCV000303169 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000242711 SCV000331238 benign not specified 2016-05-12 criteria provided, single submitter clinical testing
GeneDx RCV000242711 SCV000523595 benign not specified 2016-03-07 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002057325 SCV002327204 benign Severe X-linked myotubular myopathy 2025-01-27 criteria provided, single submitter clinical testing

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