ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.213T>C (p.Asp71=) (rs7405731)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039076 SCV000062754 benign not specified 2011-11-30 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000039076 SCV000308773 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000248512 SCV000317645 benign Cardiovascular phenotype 2015-03-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293241 SCV000402760 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350569 SCV000402761 likely benign Naxos disease 2016-06-14 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000039076 SCV000740579 benign not specified 2016-05-17 criteria provided, single submitter clinical testing

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