ClinVar Miner

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

dbSNP: rs727503005
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Total submissions: 3
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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 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.
Invitae RCV002514894 SCV003248795 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-09-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003531971 SCV004363477 likely benign Cardiomyopathy 2022-03-09 criteria provided, single submitter clinical testing

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