ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.494-11G>T

gnomAD frequency: 0.01338  dbSNP: rs56115039
Minimum review status: Collection method:
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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 RCV001518519 SCV001727227 benign MHC class I deficiency 2024-01-31 criteria provided, single submitter clinical testing

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