ClinVar Miner

Submissions for variant NM_147686.4(TRAF3IP2):c.957C>A (p.Ser319Arg)

gnomAD frequency: 0.00103  dbSNP: rs146226365
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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 RCV000651302 SCV000773153 benign Candidiasis, familial, 8 2024-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928119 SCV004740215 benign TRAF3IP2-related disorder 2019-09-13 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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