ClinVar Miner

Submissions for variant NM_001282225.2(ADA2):c.2T>A (p.Met1Lys)

dbSNP: rs745795188
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706872 SCV001934421 pathogenic Vasculitis due to ADA2 deficiency 2022-01-31 criteria provided, single submitter clinical testing Criteria: PVS1_SUP, PM2_SUP, PM3_MOD, PP4_VSTR This variant was identified as compound heterozygous with NM_001282225.2:c.158del.

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