ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.4C>T (p.Arg2Trp)

gnomAD frequency: 0.00447  dbSNP: rs61736918
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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 RCV000558338 SCV000642023 benign MHC class I deficiency 2025-01-28 criteria provided, single submitter clinical testing

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