ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.471C>T (p.His157=)

gnomAD frequency: 0.00016  dbSNP: rs149990869
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 RCV001495818 SCV001700507 likely benign MHC class II deficiency 2024-01-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001495818 SCV002090693 likely benign MHC class II deficiency 2021-08-06 no assertion criteria provided clinical testing

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