ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7548G>A (p.Arg2516=) (rs756527780)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000325577 SCV000465202 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363965 SCV000465203 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276100 SCV000465204 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333470 SCV000465205 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000429989 SCV000512886 likely benign not specified 2016-05-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000471148 SCV000555772 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-09-25 criteria provided, single submitter clinical testing
Color RCV000777765 SCV000913732 benign Cardiomyopathy 2018-07-02 criteria provided, single submitter clinical testing

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