ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5283C>T (p.Asn1761=) (rs763355815)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000288262 SCV000465110 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352546 SCV000465111 uncertain significance Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406655 SCV000465112 uncertain significance Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312304 SCV000465113 uncertain significance Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000777687 SCV000913619 likely benign Cardiomyopathy 2018-07-15 criteria provided, single submitter clinical testing
Invitae RCV000870386 SCV001011881 likely benign not provided 2018-05-15 criteria provided, single submitter clinical testing

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