ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2322C>A (p.Leu774=)

dbSNP: rs77072504
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 RCV001398629 SCV001600403 likely benign MHC class II deficiency 2020-09-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001398629 SCV002093734 likely benign MHC class II deficiency 2021-10-07 no assertion criteria provided clinical testing

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