ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.632G>A (p.Arg211His)

gnomAD frequency: 0.00002  dbSNP: rs782596223
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001563914 SCV001786972 uncertain significance X-linked Emery-Dreifuss muscular dystrophy 2021-07-14 criteria provided, single submitter clinical testing

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