ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.1120G>A (p.Ala374Thr)

gnomAD frequency: 0.01475  dbSNP: rs111303994
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525167 SCV000642009 benign MHC class I deficiency 2025-02-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000525167 SCV002797758 likely benign MHC class I deficiency 2021-07-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003979986 SCV004794658 benign TAP2-related disorder 2019-04-01 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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