ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) (rs527236046)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132568 SCV000172509 probable-pathogenic Alagille syndrome 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000597619 SCV000707404 uncertain significance not provided 2017-03-29 criteria provided, single submitter clinical testing
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000132568 SCV000267369 uncertain significance Alagille syndrome 1 2016-03-18 criteria provided, single submitter reference population

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