ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.1374G>A (p.Thr458=)

gnomAD frequency: 0.00902  dbSNP: rs149495208
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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 RCV000543701 SCV000642013 benign MHC class I deficiency 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003979987 SCV004792591 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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