ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.712G>A (p.Val238Ile)

dbSNP: rs782455914
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001038773 SCV001202265 likely benign X-linked Emery-Dreifuss muscular dystrophy 2023-11-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832392 SCV002084713 uncertain significance Emery-Dreifuss muscular dystrophy 2020-07-08 no assertion criteria provided clinical testing

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