ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.81+9C>T

gnomAD frequency: 0.00001  dbSNP: rs1235592073
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529678 SCV000645535 likely benign Alagille syndrome due to a JAG1 point mutation 2023-04-06 criteria provided, single submitter clinical testing

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