ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.399+10C>T

gnomAD frequency: 0.00003  dbSNP: rs375654959
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001044139 SCV001207920 likely benign X-linked Emery-Dreifuss muscular dystrophy 2024-01-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001044139 SCV002802322 likely benign X-linked Emery-Dreifuss muscular dystrophy 2021-08-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827269 SCV002084688 uncertain significance Emery-Dreifuss muscular dystrophy 2020-02-13 no assertion criteria provided clinical testing

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