ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2114-5_2119delinsACACACCACCTGCACGTG

dbSNP: rs2122603096
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre of Medical Genetics, University of Antwerp RCV002251309 SCV002515924 likely pathogenic Familial thoracic aortic aneurysm and aortic dissection criteria provided, single submitter clinical testing

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