ClinVar Miner

Submissions for variant NM_001270508.2(TNFAIP3):c.322A>G (p.Thr108Ala)

gnomAD frequency: 0.00033  dbSNP: rs376205580
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000894168 SCV001038136 benign not provided 2024-01-12 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV002466435 SCV002761357 likely benign A20 haploinsufficiency 2019-07-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003114268 SCV003800437 likely benign Autoinflammatory syndrome, familial, Behcet-like 1 2023-11-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000894168 SCV004160365 benign not provided 2022-07-01 criteria provided, single submitter clinical testing TNFAIP3: BS1, BS2
ITMI RCV000122146 SCV000086361 not provided not specified 2013-09-19 no assertion provided reference population
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000894168 SCV001927159 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000894168 SCV001972385 likely benign not provided no assertion criteria provided clinical testing

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