ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.439+1G>A (rs863223648)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199991 SCV000250455 pathogenic not provided 2015-05-12 criteria provided, single submitter clinical testing The c.439+1 G>A splice site mutation in the JAG1 gene has been previously reported in association with Alagille syndrome (Crosnier et al., 2001; Jurkiewicz et al. 2014). This mutation destroys the canonical splice donor site in intron 3, and is expected to cause abnormal gene splicing.This mutation destroys the canonical splice donor site in intron 3, and is expected to cause abnormal gene splicing. This variant was found in JAG1-T1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000199991 SCV000707317 pathogenic not provided 2017-03-23 criteria provided, single submitter clinical testing
Yale Center for Mendelian Genomics,Yale University RCV000845195 SCV000987131 likely pathogenic Midaortic syndrome 2018-02-26 no assertion criteria provided literature only

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