ClinVar Miner

Submissions for variant NM_001282225.2(ADA2):c.660C>T (p.Tyr220=)

gnomAD frequency: 0.00500  dbSNP: rs2231487
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652061 SCV000773929 benign Vasculitis due to ADA2 deficiency 2024-01-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811428 SCV001474056 likely benign not provided 2019-08-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263908 SCV002543396 likely benign Autoinflammatory syndrome 2021-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001811428 SCV005042002 benign not provided 2024-04-01 criteria provided, single submitter clinical testing ADA2: BP4, BP7, BS1, BS2

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