ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.963C>T (p.Cys321=)

gnomAD frequency: 0.00002  dbSNP: rs781290238
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 RCV000895885 SCV001039951 likely benign MHC class II deficiency 2024-01-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000895885 SCV001458218 likely benign MHC class II deficiency 2020-09-16 no assertion criteria provided clinical testing

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