ClinVar Miner

Submissions for variant NM_000593.6(TAP1):c.392T>C (p.Leu131Pro)

gnomAD frequency: 0.00128  dbSNP: rs142907576
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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 RCV000543357 SCV000642039 likely benign MHC class I deficiency 2025-01-29 criteria provided, single submitter clinical testing

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