ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.57C>T (p.Tyr19=) (rs371661299)

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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, Partners HealthCare Personalized Medicine RCV000222250 SCV000270185 likely benign not specified 2015-10-28 criteria provided, single submitter clinical testing p.Tyr19Tyr in exon 1 of EMD: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in the hemizygous state in 1/2149 African chromosomes by the Exome Aggregation Consortium (ExAC, http://; dbSNP rs371661299).
Invitae RCV000232450 SCV000283520 likely benign Emery-Dreifuss muscular dystrophy 1, X-linked 2019-12-31 criteria provided, single submitter clinical testing

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