ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.913A>T (p.Ile305Phe) (rs17604693)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000249794 SCV000317963 benign Cardiovascular phenotype 2015-06-23 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
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000038119 SCV000051533 benign not specified 2013-06-24 criteria provided, single submitter research
Blueprint Genetics RCV000143884 SCV000188753 uncertain significance Primary familial hypertrophic cardiomyopathy 2013-10-24 no assertion criteria provided clinical testing
Blueprint Genetics RCV000038119 SCV000263865 likely benign not specified 2015-01-14 criteria provided, single submitter clinical testing
Color RCV000029686 SCV000902583 benign Cardiomyopathy 2018-03-07 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202852 SCV000257975 benign Arrhythmogenic right ventricular cardiomyopathy 2015-02-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000202852 SCV000464862 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395135 SCV000464863 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310554 SCV000464864 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362961 SCV000464865 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029686 SCV000052338 benign Cardiomyopathy 2012-01-13 no assertion criteria provided clinical testing
Invitae RCV000469329 SCV000555743 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-08-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038119 SCV000061785 benign not specified 2011-10-12 criteria provided, single submitter clinical testing Ile305Phe in exon 7 of DSP: This variant is classified as benign based on its hi gh frequency in the general population (rs17604693, MAF >3%).
PreventionGenetics RCV000038119 SCV000310370 benign not specified criteria provided, single submitter clinical testing

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