ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.309G>A (p.Arg103=)

dbSNP: rs2148128497
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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 RCV002071392 SCV002325274 likely benign X-linked Emery-Dreifuss muscular dystrophy 2021-07-21 criteria provided, single submitter clinical testing

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