ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.1239C>T (p.Ser413=)

gnomAD frequency: 0.03488  dbSNP: rs34132052
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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 RCV000538218 SCV000642047 benign MHC class I deficiency 2025-02-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962526 SCV004787794 benign TAPBP-related disorder 2019-07-08 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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