ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1dup (p.Met1fs) (rs17133512)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622220 SCV000734861 benign Cardiovascular phenotype 2015-12-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Internal 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 RCV000037982 SCV000055160 benign not specified 2013-06-24 criteria provided, single submitter research
Color RCV000771055 SCV000902564 benign Cardiomyopathy 2018-03-09 criteria provided, single submitter clinical testing
GeneDx RCV000037982 SCV000233556 benign not specified 2017-09-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000332106 SCV000464813 benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389020 SCV000464814 benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292424 SCV000464815 benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346732 SCV000464816 benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000037982 SCV000052326 benign not specified 2015-04-30 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037982 SCV000061648 benign not specified 2010-05-03 criteria provided, single submitter clinical testing The variant has been reported in dbSNP without frequency information (rs17133512 ). Classified as benign based on high allele frequency (0.162, n=290 chromosomes ) in ARVC probands tested at the LMM. In addition, the fraction of probands carr ying the -1_1insA variant matches the expected detection rate for ARVC (~50%), f urther supporting a benign role.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845351 SCV000987399 benign not provided criteria provided, single submitter clinical testing
PreventionGenetics RCV000037982 SCV000310350 benign not specified criteria provided, single submitter clinical testing

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