ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.768C>T (p.Phe256=)

gnomAD frequency: 0.00020  dbSNP: rs145473025
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000951081 SCV001097444 likely benign MHC class I deficiency 2023-11-29 criteria provided, single submitter clinical testing

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