ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1774-6C>T (rs375016135)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226633 SCV000287308 benign Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2018-01-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000611216 SCV000710907 benign not specified 2016-05-18 criteria provided, single submitter clinical testing c.1774-6C>T of JUP: This variant is not expected to have clinical significance b ecause a C>T change at this position does not diverge from the splice consensus sequence and is therefore unlikely to impact splicing. It has been identified in 1.8% (241/13422) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs375016135).

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