ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.708-4C>G (rs201313464)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039086 SCV000062764 likely benign not specified 2016-05-18 criteria provided, single submitter clinical testing c.708-4C>G in intron 4 of JUP: This variant is not expected to have clinical sig nificance because it is not located within the splice consensus sequence. It has been identified in 4/10616 Latino chromosomes by the Exome Aggregation Consorti um (ExAC,; dbSNP rs201313464).
Invitae RCV000474347 SCV000560959 likely benign Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619953 SCV000735670 uncertain significance Cardiovascular phenotype 2019-07-30 criteria provided, single submitter clinical testing Insufficient evidence

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