ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.620G>C (p.Arg207Pro)

dbSNP: rs782352489
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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 RCV000817065 SCV000957603 benign X-linked Emery-Dreifuss muscular dystrophy 2023-12-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830790 SCV002084708 uncertain significance Emery-Dreifuss muscular dystrophy 2020-10-30 no assertion criteria provided clinical testing

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