ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.137-11dup

dbSNP: rs797045716
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193815 SCV000248085 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV003507264 SCV004354218 likely benign Severe X-linked myotubular myopathy 2023-12-30 criteria provided, single submitter clinical testing

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