ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4773G>A (p.Arg1591=) (rs28763968)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038057 SCV000061723 benign not specified 2011-12-27 criteria provided, single submitter clinical testing Arg1591Arg in exon 23 of DSP: This variant has been reported in the SNP database (rs28763968) and is present in 1.8% (127/7020) of Caucasian chromosomes in a br oad clinical cohort from the NHLBI Exome sequencing project (http://evs.gs.washi ngton.edu/EVS/). It does not change an amino acid and does not affect the splice consensus sequence. This makes a disease causing role very unlikely.
Invitae RCV000232682 SCV000288541 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-08-11 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000038057 SCV000310363 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000245309 SCV000318068 benign Cardiovascular phenotype 2015-05-06 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
Illumina Clinical Services Laboratory,Illumina RCV000270902 SCV000465078 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325940 SCV000465079 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389487 SCV000465080 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276388 SCV000465081 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000029680 SCV000910592 benign Cardiomyopathy 2018-03-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029680 SCV000052332 benign Cardiomyopathy 2014-07-19 no assertion criteria provided clinical testing

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