ClinVar Miner

Submissions for variant NM_000593.6(TAP1):c.1674C>T (p.Thr558=)

dbSNP: rs377621191
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000907057 SCV001051739 likely benign MHC class I deficiency 2023-12-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004597923 SCV005092083 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing TAP1: BP4, BP7

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