ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.1557G>A (p.Pro519=)

dbSNP: rs924677218
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 RCV001424529 SCV001627127 likely benign MHC class II deficiency 2023-11-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001424529 SCV002090728 likely benign MHC class II deficiency 2020-04-22 no assertion criteria provided clinical testing

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