ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.*276_*278del

gnomAD frequency: 0.01744  dbSNP: rs144440643
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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 RCV000357733 SCV000465306 likely benign Woolly hair-skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000322855 SCV000465308 likely benign Lethal acantholytic epidermolysis bullosa 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000382079 SCV000465309 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001546233 SCV001765720 likely benign not provided 2018-06-14 criteria provided, single submitter clinical testing

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