ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.1729A>G (p.Met577Val)

gnomAD frequency: 0.00271  dbSNP: rs2228391
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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 RCV001516173 SCV001724411 benign MHC class I deficiency 2024-01-29 criteria provided, single submitter clinical testing

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