ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2025T>C (p.His675=) (rs140670556)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000253125 SCV000318442 benign Cardiovascular phenotype 2017-01-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769485 SCV000900880 likely benign Cardiomyopathy 2015-11-05 criteria provided, single submitter clinical testing
GeneDx RCV000154628 SCV000169890 benign not specified 2013-09-24 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 RCV000233472 SCV000287310 benign Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2018-01-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154628 SCV000204302 benign not specified 2013-10-10 criteria provided, single submitter clinical testing His675His in Exon 12 of JUP: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence and has been identified in 1.0% (36/3738) of Africa n American chromosomes from a broad population by the NHLBI Exome Sequencing Pro ject (http://evs.gs.washington.edu/EVS; dbSNP rs140670556).

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