ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.446C>G (p.Pro149Arg)

dbSNP: rs2148485707
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516072 SCV001724285 benign Severe X-linked myotubular myopathy 2022-01-06 criteria provided, single submitter clinical testing

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