ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2862C>T (p.Cys954=) (rs2064217)

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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 RCV000038021 SCV000061687 benign not specified 2007-11-06 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000038021 SCV000310354 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402854 SCV000464966 benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299963 SCV000464967 benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368899 SCV000464968 benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397417 SCV000464969 benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619821 SCV000734863 benign Cardiovascular phenotype 2015-06-21 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 RCV000775994 SCV000910523 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing

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