ClinVar Miner

Submissions for variant NM_145725.3(TRAF3):c.483C>T (p.Asp161=)

gnomAD frequency: 0.00004  dbSNP: rs374166578
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002094429 SCV002437984 likely benign Herpes simplex encephalitis, susceptibility to, 3 2023-07-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003971007 SCV004779456 likely benign TRAF3-related disorder 2019-03-04 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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