ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.353G>A (p.Arg118His)

gnomAD frequency: 0.00002  dbSNP: rs782201984
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638216 SCV000759702 likely benign X-linked Emery-Dreifuss muscular dystrophy 2023-09-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835027 SCV002084686 uncertain significance Emery-Dreifuss muscular dystrophy 2020-03-09 no assertion criteria provided clinical testing

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