ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.1695G>A (p.Glu565=)

gnomAD frequency: 0.00004  dbSNP: rs766945455
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 RCV001426191 SCV001628840 likely benign MHC class II deficiency 2023-08-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001426191 SCV002090733 likely benign MHC class II deficiency 2020-03-03 no assertion criteria provided clinical testing

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