ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.711C>T (p.Ile237=)

gnomAD frequency: 0.00001  dbSNP: rs727503037
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150649 SCV000197990 likely benign not specified 2013-05-03 criteria provided, single submitter clinical testing Ile237Ile in exon 6 of EMD: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. Ile237Ile in exon 6 of EMD (allele frequency = n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV001416485 SCV001618667 likely benign X-linked Emery-Dreifuss muscular dystrophy 2023-08-11 criteria provided, single submitter clinical testing

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