ClinVar Miner

Submissions for variant NM_001270508.2(TNFAIP3):c.2364G>A (p.Met788Ile)

gnomAD frequency: 0.00045  dbSNP: rs143002189
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001417505 SCV001619707 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001417505 SCV001962004 benign not provided 2022-08-01 criteria provided, single submitter clinical testing TNFAIP3: BP1, BP4, BS1, BS2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001417505 SCV002010592 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003761258 SCV002048461 likely benign Autoinflammatory syndrome, familial, Behcet-like 1 2023-05-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953768 SCV004768049 likely benign TNFAIP3-related disorder 2020-03-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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