ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.546G>A (p.Ser182=) (rs202038498)

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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 RCV000251485 SCV000318868 likely benign Cardiovascular phenotype 2017-04-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769496 SCV000900891 likely benign Cardiomyopathy 2017-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000220195 SCV000513309 likely benign not specified 2017-08-21 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 RCV000364561 SCV000402750 uncertain significance Naxos disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272417 SCV000402751 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000230519 SCV000287315 benign Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2017-12-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220195 SCV000270299 likely benign not specified 2015-05-07 criteria provided, single submitter clinical testing p.Ser182Ser in exon 4 of JUP: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.1% (10/8402) of Ea st Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs202038498).

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