ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.15A>C (p.Ser5=)

dbSNP: rs2148425501
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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 RCV001425852 SCV001628490 likely benign Severe X-linked myotubular myopathy 2019-10-11 criteria provided, single submitter clinical testing

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