ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.-179T>C

dbSNP: rs886061741
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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 RCV000309060 SCV000464801 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000366106 SCV000464802 uncertain significance Epidermolysis bullosa simplex due to plakophilin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000399936 SCV000464803 uncertain significance Lethal acantholytic epidermolysis bullosa 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000307987 SCV000464804 uncertain significance Woolly hair-skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing

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