Submissions for variant NM_001270508.2(TNFAIP3):c.295+8T>C

gnomAD frequency: 0.00032  dbSNP: rs370813134

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000894167	SCV001038135	benign	not provided	2024-01-12	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003117640	SCV003799320	likely benign	Autoinflammatory syndrome, familial, Behcet-like 1	2023-11-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000894167	SCV004160364	benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	TNFAIP3: BS1, BS2
Genetics and Molecular Pathology, SA Pathology	RCV003117640	SCV004175556	likely benign	Autoinflammatory syndrome, familial, Behcet-like 1	2020-11-09	criteria provided, single submitter	clinical testing	The TNFAIP3 c.295+8T>C variant is classified as Likely Benign (BP4, BP6)
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000894167	SCV001929525	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000894167	SCV001965685	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003910647	SCV004725824	likely benign	TNFAIP3-related disorder	2019-07-31	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).