ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7997G>A (p.Gly2666Asp)

dbSNP: rs750085948
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816281 SCV000956782 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-12-06 criteria provided, single submitter clinical testing
GeneDx RCV001772115 SCV001993075 uncertain significance not provided 2019-02-22 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 30276209)

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