ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.82+1G>T

dbSNP: rs1557182214
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV000497910 SCV000590854 pathogenic X-linked Emery-Dreifuss muscular dystrophy 2016-07-26 criteria provided, single submitter clinical testing

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