ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.*305C>A

dbSNP: rs886061751
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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 RCV000402088 SCV000465318 uncertain significance Epidermolysis bullosa simplex due to plakophilin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000300973 SCV000465319 uncertain significance Woolly hair-skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000337746 SCV000465320 uncertain significance Lethal acantholytic epidermolysis bullosa 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000391883 SCV000465321 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing

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