ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4578C>A (p.Asn1526Lys) (rs28763966)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000038054 SCV000051536 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038054 SCV000061720 benign not specified 2012-02-09 criteria provided, single submitter clinical testing Asn1526Lys in exon 23 of DSP: This variant is classified as benign based on its high frequency in the general population (dbSNP rs28763966; NHLBI Exome Sequenci ng Project, http://evs.gs.washington.edu/EVS). A=565/C=3173
Ambry Genetics RCV000246748 SCV000317825 benign Cardiovascular phenotype 2015-06-26 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,Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Illumina Clinical Services Laboratory,Illumina RCV000359064 SCV000465054 benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266738 SCV000465055 benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305773 SCV000465056 benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353572 SCV000465057 benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000473526 SCV000555778 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-08-08 criteria provided, single submitter clinical testing
Color RCV000776075 SCV000910799 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing

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