ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.165C>T (p.Asp55=)

gnomAD frequency: 0.00002  dbSNP: rs776624117
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 RCV001492412 SCV001697023 likely benign MHC class II deficiency 2023-11-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001492412 SCV002090681 likely benign MHC class II deficiency 2021-08-17 no assertion criteria provided clinical testing

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