ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser) (rs77758574)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038035 SCV000061701 benign not specified 2012-06-06 criteria provided, single submitter clinical testing Thr1381Ser in Exon 23 of DSP: This variant is not expected to have clinical sign ificance because it has been identified in 1.3% (47/3738) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs77758574).
GeneDx RCV000038035 SCV000233541 benign not specified 2014-07-10 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224825 SCV000280937 likely benign not provided 2016-04-01 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000231757 SCV000288535 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-01-01 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239236 SCV000297157 benign Arrhythmogenic right ventricular cardiomyopathy 2015-11-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000239236 SCV000465026 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280297 SCV000465027 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337518 SCV000465028 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402762 SCV000465029 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000771263 SCV000903381 benign Cardiomyopathy 2018-04-13 criteria provided, single submitter clinical testing

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