ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2059A>G (p.Ile687Val)

gnomAD frequency: 0.00074  dbSNP: rs138366708
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039074 SCV000062752 benign not specified 2012-12-06 criteria provided, single submitter clinical testing Ile687Val in exon 13 of JUP: This variant is not expected to have clinical signi ficance because it has been identified in 4.2% (8/192) of Kenyan chromosomes fro m a broad population by the 1000 Genomes project (dbSNP rs138366708).
GeneDx RCV001719757 SCV000513316 likely benign not provided 2020-10-06 criteria provided, single submitter clinical testing
Invitae RCV000534009 SCV000645730 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-01-31 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852717 SCV000995431 benign Cardiomyopathy; Hypertrophic cardiomyopathy 2019-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000534009 SCV002801576 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-09-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003904934 SCV004718587 likely benign JUP-related disorder 2023-10-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV000039074 SCV001924233 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001719757 SCV001970889 likely benign not provided no assertion criteria provided clinical testing

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