ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.1176G>A (p.Ser392=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002607749 SCV003511575 likely benign MHC class I deficiency 2023-10-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004546766 SCV005042381 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing TAPBP: BP4, BP7

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