ClinVar Miner

Submissions for variant NM_000593.6(TAP1):c.2182C>A (p.Gln728Lys)

gnomAD frequency: 0.00175  dbSNP: rs74897484
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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 RCV000559379 SCV000642037 benign MHC class I deficiency 2024-01-16 criteria provided, single submitter clinical testing

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