ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.720G>A (p.Val240=)

dbSNP: rs2148493142
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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 RCV001472559 SCV001676694 likely benign Severe X-linked myotubular myopathy 2019-07-06 criteria provided, single submitter clinical testing

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