ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.567C>T (p.Val189=) (rs35297577)

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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 RCV000251291 SCV000317826 likely benign Cardiovascular phenotype 2018-01-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000039085 SCV000168905 benign not specified 2014-03-10 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 RCV000463501 SCV000560972 benign Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2017-06-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039085 SCV000062763 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Val189Val in Exon 04 of JUP: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence. It has been identified in 0.2% (7/3734) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs35297577).

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