ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2682+8A>G

dbSNP: rs560065330
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000292075 SCV000344925 uncertain significance not provided 2016-08-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000645024 SCV000766763 likely benign Alagille syndrome due to a JAG1 point mutation 2020-10-09 criteria provided, single submitter clinical testing

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