ClinVar Miner

Submissions for variant NM_000593.6(TAP1):c.2076C>T (p.Tyr692=)

gnomAD frequency: 0.00120  dbSNP: rs56337036
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 RCV000642381 SCV000764050 likely benign MHC class I deficiency 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432683 SCV004161459 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing TAP1: BP4, BP7

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