ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2826G>A (p.Gln942=)

dbSNP: rs760765525
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002075262 SCV002374969 likely benign Alagille syndrome due to a JAG1 point mutation 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704715 SCV005207357 likely benign not provided criteria provided, single submitter not provided

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