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: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001065569 SCV001230533 likely benign Vasculitis due to ADA2 deficiency 2024-09-15 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
Fulgent Genetics, Fulgent Genetics RCV005029653 SCV005661627 uncertain significance Sneddon syndrome; Vasculitis due to ADA2 deficiency 2024-03-27 criteria provided, single submitter clinical testing

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