ClinVar Miner

Submissions for variant NM_145725.3(TRAF3):c.386T>C (p.Met129Thr)

gnomAD frequency: 0.43864  dbSNP: rs1131877
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518952 SCV001727735 benign Herpes simplex encephalitis, susceptibility to, 3 2025-02-03 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487382 SCV004233105 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 72% of patients studied by a panel of primary immunodeficiencies. Number of patients: 68. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV004715461 SCV005294627 benign not provided criteria provided, single submitter not provided
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003487382 SCV005872910 benign not specified 2025-03-04 criteria provided, single submitter clinical testing

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