ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.405C>T (p.Asp135=) (rs17850807)

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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 RCV000243259 SCV000318517 benign Cardiovascular phenotype 2015-06-26 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770528 SCV000901974 benign Cardiomyopathy 2016-04-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337251 SCV000402758 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375451 SCV000402759 likely benign Naxos disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000475618 SCV000560971 benign Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2017-08-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039081 SCV000062759 benign not specified 2012-04-24 criteria provided, single submitter clinical testing Asp135Asp in Exon 3 of JUP: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 10.2% (380/3736) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS/; rs17850807).
PreventionGenetics RCV000039081 SCV000313869 benign not specified criteria provided, single submitter clinical testing

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