ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2086+7G>C (rs727504940)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156339 SCV000206057 likely benign not specified 2014-02-21 criteria provided, single submitter clinical testing c.2086+7G>C in intron 13 of JUP: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. 208 6+7G>C in intron 13 of JUP ((allele frequency = n/a)
Invitae RCV000469625 SCV000560973 likely benign not provided 2018-03-28 criteria provided, single submitter clinical testing

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