ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.449+10G>C

gnomAD frequency: 0.00002  dbSNP: rs782467790
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000272940 SCV000333031 uncertain significance not provided 2015-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001424183 SCV001626775 likely benign X-linked Emery-Dreifuss muscular dystrophy 2024-01-28 criteria provided, single submitter clinical testing

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