ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.63+7del

dbSNP: rs782222093
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599834 SCV000721547 likely benign not specified 2017-07-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000876026 SCV001018531 benign Severe X-linked myotubular myopathy 2024-05-13 criteria provided, single submitter clinical testing

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