ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.939+19G>T

gnomAD frequency: 0.00001  dbSNP: rs777724973
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002206611 SCV002493109 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-04-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502027 SCV002811923 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 2021-09-17 criteria provided, single submitter clinical testing

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