ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.132G>A (p.Gln44=)

gnomAD frequency: 0.00001  dbSNP: rs1322660028
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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 RCV001490496 SCV001695063 likely benign X-linked Emery-Dreifuss muscular dystrophy 2022-04-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825774 SCV002084673 likely benign Emery-Dreifuss muscular dystrophy 2021-04-06 no assertion criteria provided clinical testing

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