ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1224C>T (p.Leu408=) (rs2230408)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252367 SCV000319140 benign Cardiovascular phenotype 2015-04-20 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769492 SCV000900887 benign Cardiomyopathy 2016-08-02 criteria provided, single submitter clinical testing
GeneDx RCV000039061 SCV000168910 benign not specified 2014-03-07 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 RCV000289241 SCV000402734 likely benign Naxos disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327834 SCV000402735 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000232420 SCV000287304 benign Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2017-12-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039061 SCV000062739 benign not specified 2013-08-22 criteria provided, single submitter clinical testing Leu408Leu in exon 8 of JUP: This variant is not expected to have clinical signif icance because it has been identified in 2.0% (90/4406) of African American chro mosomes from a broad population by the NHLBI Exome Sequencing Project (http://ev s.gs.washington.edu/EVS/; dbSNP rs2230408).

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