ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1230+7G>A

dbSNP: rs1298715924
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261987 SCV002542745 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing

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