ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.717C>T (p.Leu239=)

gnomAD frequency: 0.00002  dbSNP: rs782369799
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001450907 SCV001654526 likely benign X-linked Emery-Dreifuss muscular dystrophy 2023-10-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832583 SCV002084715 likely benign Emery-Dreifuss muscular dystrophy 2021-09-09 no assertion criteria provided clinical testing

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