ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.144G>A (p.Gly48=)

gnomAD frequency: 0.00001  dbSNP: rs556618855
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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 RCV001495399 SCV001700081 likely benign MHC class I deficiency 2024-04-17 criteria provided, single submitter clinical testing

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