ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7278T>C (p.Tyr2426=) (rs78843072)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619300 SCV000737473 likely benign Cardiovascular phenotype 2016-02-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Subpopulation frequency in support of benign classification
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769241 SCV000900617 likely benign Cardiomyopathy 2016-08-23 criteria provided, single submitter clinical testing
Color RCV000769241 SCV000904473 benign Cardiomyopathy 2018-06-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406305 SCV000465198 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302052 SCV000465199 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365039 SCV000465200 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272798 SCV000465201 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000641828 SCV000763478 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-12-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038086 SCV000061752 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Tyr2426Tyr 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 wit hin the splice consensus sequence. It has been identified in 1/7020 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs78843072). Tyr2426Tyr in exon 24 of DSP (rs78843072; allele frequency = 1/7020) **

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