ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2631G>A (p.Arg877=) (rs1016835)

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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 RCV000038011 SCV000061677 benign not specified 2011-07-20 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000038011 SCV000310351 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000250214 SCV000317614 benign Cardiovascular phenotype 2015-03-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292946 SCV000464938 benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352543 SCV000464939 benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388191 SCV000464940 benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289404 SCV000464941 benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000775975 SCV000910496 benign Cardiomyopathy 2018-03-09 criteria provided, single submitter clinical testing

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