ClinVar Miner

Submissions for variant NM_001282225.2(ADA2):c.1137_1139dup (p.Thr380dup)

dbSNP: rs780690814
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055869 SCV001220283 likely benign Vasculitis due to ADA2 deficiency 2024-01-12 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264169 SCV002543361 uncertain significance Autoinflammatory syndrome 2022-01-17 criteria provided, single submitter clinical testing

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