ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3963G>A (p.Gln1321=) (rs61731476)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038032 SCV000061698 benign not specified 2016-04-29 criteria provided, single submitter clinical testing p.Gln1321Gln in exon 23 of DSP: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 1.9% (1272/66208) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org;dbSNP rs61731476).
Invitae RCV000204773 SCV000261576 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000249259 SCV000318060 benign Cardiovascular phenotype 2015-07-30 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 RCV000367491 SCV000465014 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275312 SCV000465015 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332838 SCV000465016 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371155 SCV000465017 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000776024 SCV000910594 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing

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