ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.909+6C>T (rs193922705)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039091 SCV000231029 likely benign not specified 2015-01-14 criteria provided, single submitter clinical testing
GeneDx RCV000039091 SCV000168908 benign not specified 2013-07-15 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.
Illumina Clinical Services Laboratory,Illumina RCV000396251 SCV000402742 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300788 SCV000402743 uncertain significance Naxos disease 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030098 SCV000052753 benign Cardiac arrhythmia 2015-03-25 no assertion criteria provided clinical testing
Invitae RCV000233778 SCV000287319 likely benign Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2017-12-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039091 SCV000062769 likely benign not specified 2015-05-14 criteria provided, single submitter clinical testing c.909+6C>T in exon 5 of JUP: This variant is not expected to have clinical signi ficance because it has been identified in 0.3% (184/66606) of European chromosom es, including 2 homozygous occurrences, by the Exome Aggregation Consortium (ExA C, http://exac.broadinstitute.org; dbSNP rs193922705).

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