ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) (rs113902911)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038043 SCV000061709 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Arg1485Ser in Exon 23 of DSP: This variant is not expected to have clinical si gnificance because it has been identified in 2.0% (76/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs113902911).
GeneDx RCV000038043 SCV000168265 benign not specified 2014-03-27 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.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202684 SCV000257966 likely benign Arrhythmogenic right ventricular cardiomyopathy 2015-02-05 criteria provided, single submitter clinical testing
Invitae RCV000233340 SCV000288538 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-01-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317162 SCV000465042 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374137 SCV000465043 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000202684 SCV000465044 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348311 SCV000465045 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617274 SCV000734893 benign Cardiovascular phenotype 2015-10-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770244 SCV000901675 likely benign Cardiomyopathy 2015-11-04 criteria provided, single submitter clinical testing
Color RCV000770244 SCV000913772 benign Cardiomyopathy 2018-03-08 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845305 SCV000987345 benign not provided criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852994 SCV000995745 likely benign Cardiomyopathy; Dilated cardiomyopathy 2018-07-13 criteria provided, single submitter clinical testing

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