ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7275C>G (p.Thr2425=)

dbSNP: rs727503006
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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, Mass General Brigham Personalized Medicine RCV000150580 SCV000197845 likely benign not specified 2014-08-01 criteria provided, single submitter clinical testing Thr2425Thr in exon 24 of DSP: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence

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