ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.188-13C>T

gnomAD frequency: 0.00002  dbSNP: rs782141516
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703799 SCV000523656 likely benign not provided 2019-01-10 criteria provided, single submitter clinical testing
Invitae RCV002062600 SCV002438939 likely benign X-linked Emery-Dreifuss muscular dystrophy 2023-05-16 criteria provided, single submitter clinical testing

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