ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.489C>T (p.Ser163=)

gnomAD frequency: 0.00001  dbSNP: rs782558454
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001445647 SCV001648681 likely benign X-linked Emery-Dreifuss muscular dystrophy 2021-10-31 criteria provided, single submitter clinical testing

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