ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1680C>T (p.Ile560=)

dbSNP: rs397516920
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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 RCV000037999 SCV000061665 likely benign not specified 2010-04-23 criteria provided, single submitter clinical testing
Invitae RCV002513493 SCV003475091 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-06-22 criteria provided, single submitter clinical testing

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