ClinVar Miner

Submissions for variant NM_004415.3(DSP):c.-281C>T

gnomAD frequency: 0.00014  dbSNP: rs547069600
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000292531 SCV000484274 likely benign Woolly hair-skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000349784 SCV000484275 likely benign Epidermolysis bullosa simplex due to plakophilin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000391277 SCV000484276 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000282042 SCV000484277 likely benign Lethal acantholytic epidermolysis bullosa 2016-06-14 criteria provided, single submitter clinical testing

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