ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5213G>A (p.Arg1738Gln) (rs6929069)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620084 SCV000734860 benign Cardiovascular phenotype 2015-06-25 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 RCV000038061 SCV000051538 benign not specified 2013-06-24 criteria provided, single submitter research
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000430654 SCV000510971 benign not provided 2016-07-22 criteria provided, single submitter clinical testing
Color RCV000771053 SCV000902560 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275007 SCV000465098 benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330163 SCV000465099 benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356673 SCV000465100 benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262077 SCV000465101 benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038061 SCV000061727 benign not specified 2007-11-16 criteria provided, single submitter clinical testing
PreventionGenetics RCV000038061 SCV000310364 benign not specified criteria provided, single submitter clinical testing

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