ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4954del (p.Glu1652fs)

dbSNP: rs1581818649
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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 RCV000788798 SCV000928049 likely pathogenic not provided 2018-11-13 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796313 SCV005415985 likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis criteria provided, single submitter clinical testing PM2_Supporting+PVS1

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