ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.-190G>T

dbSNP: rs886061740
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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 RCV000403802 SCV000464797 uncertain significance Epidermolysis bullosa simplex due to plakophilin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000296350 SCV000464798 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000348911 SCV000464799 uncertain significance Lethal acantholytic epidermolysis bullosa 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000395573 SCV000464800 uncertain significance Woolly hair-skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing

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