ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.273+10C>T (rs56148603)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038013 SCV000061679 benign not specified 2011-12-12 criteria provided, single submitter clinical testing 273+10C>T in intron 2 of DSP: This variant is not expected to have clinical sign ificance because it is not located in the conserved region of the splicing conse nsus sequence. 273+10C>T in intron 2 of DSP (allele frequency = 1.4%, 30/2000)
PreventionGenetics,PreventionGenetics RCV000038013 SCV000310352 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274004 SCV000464846 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312765 SCV000464847 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366031 SCV000464848 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269015 SCV000464849 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000475126 SCV000555744 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-08-17 criteria provided, single submitter clinical testing

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