ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.681C>A (p.Gly227=)

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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 RCV003045527 SCV003324597 likely benign X-linked Emery-Dreifuss muscular dystrophy 2023-09-08 criteria provided, single submitter clinical testing

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