ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.651G>A (p.Leu217=)

dbSNP: rs2067885915
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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 RCV001228320 SCV001400715 likely benign X-linked Emery-Dreifuss muscular dystrophy 2024-02-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833972 SCV002084710 uncertain significance Emery-Dreifuss muscular dystrophy 2020-10-08 no assertion criteria provided clinical testing

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