ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.753C>T (p.Thr251=)

gnomAD frequency: 0.00033  dbSNP: rs147684698
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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 RCV000642386 SCV000764055 likely benign MHC class I deficiency 2024-01-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003992360 SCV004811029 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing TAPBP: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003928093 SCV004743411 likely benign TAPBP-related disorder 2019-05-21 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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