ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.153C>A (p.Pro51=)

gnomAD frequency: 0.00001  dbSNP: rs782051850
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000943189 SCV001089131 likely benign X-linked Emery-Dreifuss muscular dystrophy 2024-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279589 SCV001466691 likely benign Emery-Dreifuss muscular dystrophy 2020-10-08 no assertion criteria provided clinical testing

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