ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.1878G>A (p.Arg626=)

gnomAD frequency: 0.00149  dbSNP: rs141926520
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 RCV000907140 SCV001051828 benign MHC class I deficiency 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884797 SCV004699957 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing TAP2: BP4, BP7, BS2

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