ClinVar Miner

Submissions for variant NM_001282225.2(ADA2):c.1065C>A (p.Phe355Leu)

gnomAD frequency: 0.00014  dbSNP: rs116020027
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065569 SCV001230533 likely benign Vasculitis due to ADA2 deficiency 2023-10-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV001065569 SCV001519972 uncertain significance Vasculitis due to ADA2 deficiency 2020-03-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264174 SCV002543359 uncertain significance Autoinflammatory syndrome 2020-08-05 criteria provided, single submitter clinical testing

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