ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6654C>G (p.Thr2218=) (rs727503005)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150579 SCV000197840 likely benign not specified 2014-11-17 criteria provided, single submitter clinical testing p.Thr2218Thr in exon 24 of DSP: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence.

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