ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2617T>C (p.Leu873=)

gnomAD frequency: 0.00004  dbSNP: rs368233530
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 RCV000883264 SCV001026556 likely benign MHC class II deficiency 2024-11-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000883264 SCV001452155 uncertain significance MHC class II deficiency 2020-02-13 no assertion criteria provided clinical testing

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