ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.1951C>T (p.Arg651Cys)

gnomAD frequency: 0.05694  dbSNP: rs4148876
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 RCV001510499 SCV001717548 benign MHC class I deficiency 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001510499 SCV002062199 benign MHC class I deficiency 2021-07-15 criteria provided, single submitter clinical testing

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