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
Ambry Genetics RCV000619953 SCV000735670 uncertain significance Cardiovascular phenotype 2016-12-16 criteria provided, single submitter clinical testing
Invitae RCV000474347 SCV000560959 likely benign Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2017-12-11 criteria provided, single submitter clinical testing
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, http://exac.broadinstitute.org; dbSNP rs201313464).

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