ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.403C>T (p.His135Tyr)

gnomAD frequency: 0.00001  dbSNP: rs782110153
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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 RCV002209591 SCV002368994 likely benign X-linked Emery-Dreifuss muscular dystrophy 2023-12-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003492731 SCV003833442 uncertain significance Emery-Dreifuss muscular dystrophy 1, X-linked 2019-02-27 criteria provided, single submitter clinical testing

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