ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2031G>A (p.Pro677=) (rs188888662)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619251 SCV000736646 likely benign Cardiovascular phenotype 2016-06-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000126387 SCV000169891 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.
Invitae RCV000645217 SCV000766959 likely 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 RCV000126387 SCV000270296 likely benign not specified 2015-07-30 criteria provided, single submitter clinical testing p.Pro677Pro in Exon12 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 31/66738 of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs188888662).

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