ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.232-28C>T

gnomAD frequency: 0.03576  dbSNP: rs73620649
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001659438 SCV001881717 benign not provided 2018-07-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001827571 SCV002424896 benign Severe X-linked myotubular myopathy 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001659438 SCV005279686 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001827571 SCV002084510 benign Severe X-linked myotubular myopathy 2019-10-17 no assertion criteria provided clinical testing

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