ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.357G>A (p.Pro119=)

gnomAD frequency: 0.00003  dbSNP: rs782579395
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602487 SCV000729336 likely benign not specified 2017-12-18 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.
Ambry Genetics RCV000618593 SCV000736013 likely benign Cardiovascular phenotype 2017-09-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001491325 SCV001695912 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-12-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798925 SCV002043157 likely benign Cardiomyopathy 2020-07-21 criteria provided, single submitter clinical testing

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