ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.537C>T (p.Ile179=)

gnomAD frequency: 0.00039  dbSNP: rs150583253
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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 RCV000899136 SCV001043386 likely benign MHC class I deficiency 2024-01-19 criteria provided, single submitter clinical testing

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