ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.867C>T (p.Thr289=) (rs2230407)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030097 SCV000052752 benign Cardiac arrhythmia 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039089 SCV000062767 benign not specified 2012-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000039089 SCV000168907 benign not specified 2014-01-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000205099 SCV000261788 benign Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2018-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000247369 SCV000317865 benign Cardiovascular phenotype 2015-07-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366923 SCV000402744 likely benign Naxos disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000396256 SCV000402745 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769494 SCV000900889 benign Cardiomyopathy 2016-06-17 criteria provided, single submitter clinical testing

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