ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.297G>A (p.Ala99=)

gnomAD frequency: 0.00002  dbSNP: rs781784303
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521199 SCV001730486 benign Severe X-linked myotubular myopathy 2023-10-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001521199 SCV002084513 likely benign Severe X-linked myotubular myopathy 2021-08-27 no assertion criteria provided clinical testing

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