ClinVar Miner

Submissions for variant NM_001282225.2(ADA2):c.1283C>T (p.Thr428Ile)

dbSNP: rs2123601456
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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 RCV002264602 SCV002543364 uncertain significance Autoinflammatory syndrome 2020-08-18 criteria provided, single submitter clinical testing

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