ClinVar Miner

Submissions for variant NM_000593.6(TAP1):c.1604C>T (p.Ala535Val)

gnomAD frequency: 0.00003  dbSNP: rs370875392
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center RCV003985246 SCV004801390 uncertain significance MHC class I deficiency 2024-03-19 criteria provided, single submitter clinical testing

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