ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.285T>C (p.Tyr95=)

dbSNP: rs2148128483
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001563916 SCV001786974 uncertain significance X-linked Emery-Dreifuss muscular dystrophy 2021-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001563916 SCV002466279 likely benign X-linked Emery-Dreifuss muscular dystrophy 2022-09-12 criteria provided, single submitter clinical testing

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