ClinVar Miner

Submissions for variant NM_000593.6(TAP1):c.1976G>A (p.Arg659Gln)

gnomAD frequency: 0.00096  dbSNP: rs121917702
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554627 SCV000642034 likely benign MHC class I deficiency 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000554627 SCV002804753 likely benign MHC class I deficiency 2021-11-02 criteria provided, single submitter clinical testing
OMIM RCV000014734 SCV000034989 pathogenic TAP1 deficiency, somatic 1996-06-01 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001725932 SCV001963247 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001725932 SCV001973190 uncertain significance not provided no assertion criteria provided clinical testing

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