ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2343G>A (p.Ser781=)

gnomAD frequency: 0.00002  dbSNP: rs749019138
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 RCV000526330 SCV000630765 likely benign MHC class II deficiency 2024-10-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000526330 SCV002093738 uncertain significance MHC class II deficiency 2019-10-28 no assertion criteria provided clinical testing

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