ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.1014C>T (p.Gly338=)

gnomAD frequency: 0.00001  dbSNP: rs749398191
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001392190 SCV001593829 likely benign MHC class I deficiency 2024-11-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001796475 SCV004161486 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing TAPBP: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001796475 SCV002033890 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796475 SCV002037854 likely benign not provided no assertion criteria provided clinical testing

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