ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.615G>A (p.Pro205=)

gnomAD frequency: 0.00045  dbSNP: rs144517020
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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 RCV000890058 SCV001033781 benign Severe X-linked myotubular myopathy 2024-08-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV000890058 SCV001462907 benign Severe X-linked myotubular myopathy 2020-09-16 no assertion criteria provided clinical testing

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