ClinVar Miner

Submissions for variant NM_000593.6(TAP1):c.857C>T (p.Ser286Phe)

gnomAD frequency: 0.00961  dbSNP: rs2228111
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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 RCV000642373 SCV000764042 benign MHC class I deficiency 2025-01-27 criteria provided, single submitter clinical testing

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