ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7122C>T (p.Thr2374=) (rs2076300)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038083 SCV000061749 benign not specified 2007-11-07 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000038083 SCV000310367 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295739 SCV000465190 benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348344 SCV000465191 benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391444 SCV000465192 benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280755 SCV000465193 benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621629 SCV000734864 benign Cardiovascular phenotype 2015-03-09 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
Color RCV000771045 SCV000902547 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845411 SCV000987478 benign not provided criteria provided, single submitter clinical testing

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