ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8175C>A (p.Arg2725=) (rs11558731)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038097 SCV000061763 benign not specified 2012-04-16 criteria provided, single submitter clinical testing Arg2725Arg in exon 24 of DSP: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It it has been identified in 6.5% (453/7020) o f European American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS/dbSNP rs11558731).
PreventionGenetics,PreventionGenetics RCV000038097 SCV000310368 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000246551 SCV000317994 benign Cardiovascular phenotype 2015-06-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345016 SCV000465234 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407224 SCV000465235 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314429 SCV000465236 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348279 SCV000465237 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000469955 SCV000555752 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-08-17 criteria provided, single submitter clinical testing
Color RCV000776009 SCV000910548 benign Cardiomyopathy 2018-04-08 criteria provided, single submitter clinical testing

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