ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4803G>A (p.Met1601Ile) (rs869025392)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208438 SCV000263873 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2015-08-14 criteria provided, single submitter clinical testing
Rampazzo Lab, Human Molecular Genetics Unit,University of Padua RCV000208438 SCV000564397 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2017-04-18 no assertion criteria provided research This missense mutation is absent in all consulted databases of genetic variations (dbSNP, 1000Genomes, EVS and ExAC) and involves a highly conserved residue in the central rod domain.

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