ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3308C>T (p.Thr1103Ile)

gnomAD frequency: 0.00002  dbSNP: rs781429347
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176613 SCV000228297 uncertain significance not provided 2015-05-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000176613 SCV002496662 uncertain significance not provided 2022-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002516710 SCV002950017 likely benign Alagille syndrome due to a JAG1 point mutation 2022-06-13 criteria provided, single submitter clinical testing

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