ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.126T>C (p.Tyr42=) (rs36087964)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037988 SCV000061654 benign not specified 2012-04-19 criteria provided, single submitter clinical testing Tyr42Tyr in exon 1 of DSP: This variant is not expected to have clinical signifi cance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 5% (349/6940) of European American chromosomes and 9% (334/3356) of African American chromosomes from a b road population by the NHLBI Exome Sequencing Project (http://evs.gs.washington. edu/EVS/; dbSNP rs36087964)
PreventionGenetics,PreventionGenetics RCV000037988 SCV000310348 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380793 SCV000464834 benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288715 SCV000464835 benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341384 SCV000464836 benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379727 SCV000464837 benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618314 SCV000734862 benign Cardiovascular phenotype 2015-06-12 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
Color RCV000771064 SCV000902576 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing

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