ClinVar Miner

Submissions for variant NM_001270508.2(TNFAIP3):c.380T>G (p.Phe127Cys)

gnomAD frequency: 0.13432  dbSNP: rs2230926
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003103986 SCV001470929 benign Autoinflammatory syndrome, familial, Behcet-like 1 2024-11-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001443508 SCV001646481 likely benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001443508 SCV001890536 benign not provided 2019-04-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31131138, 30529365, 26338037, 26502338, 19165918, 24023622, 24728327, 20169177, 19838193, 19165919, 19774492, 20617138, 20483768, 22924496, 21326317, 24159176, 20112363, 23261300)
Breakthrough Genomics, Breakthrough Genomics RCV001443508 SCV005227767 likely benign not provided criteria provided, single submitter not provided
ITMI RCV000122149 SCV000086364 not provided not specified 2013-09-19 no assertion provided reference population

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