ClinVar Miner

Submissions for variant NM_001282225.2(ADA2):c.194C>T (p.Thr65Met)

gnomAD frequency: 0.00068  dbSNP: rs61747288
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707211 SCV000836299 benign Vasculitis due to ADA2 deficiency 2024-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765603 SCV000896926 uncertain significance Sneddon syndrome; Vasculitis due to ADA2 deficiency 2018-10-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263952 SCV002542878 likely benign Autoinflammatory syndrome 2021-07-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002263951 SCV002544694 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing ADA2: PP4, BP4

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