ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.*9T>A (rs11558732)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037981 SCV000061647 benign not specified 2012-01-20 criteria provided, single submitter clinical testing *9T>A variant in 3' UTR of DSP: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and it has been ident ified in 1.11% (78/7020) of European American chromosomes by the NHLBI Exome Seq uencing Project in a broad population (http://evs.gs.washington.edu/EVS; rs11558 732).
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202662 SCV000257963 likely benign Arrhythmogenic right ventricular cardiomyopathy 2015-06-05 criteria provided, single submitter clinical testing
Invitae RCV000233409 SCV000288521 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2016-03-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393763 SCV000465278 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307204 SCV000465279 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365779 SCV000465280 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000202662 SCV000465281 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000438294 SCV000511756 likely benign not provided 2016-09-16 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770254 SCV000901686 benign Cardiomyopathy 2015-11-18 criteria provided, single submitter clinical testing
Mendelics RCV000987655 SCV001137055 benign Dilated cardiomyopathy with woolly hair and keratoderma 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000438294 SCV001154660 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing

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