ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.3015G>A (p.Ser1005=)

gnomAD frequency: 0.00008  dbSNP: rs764664500
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 RCV000927152 SCV001072730 likely benign MHC class II deficiency 2023-11-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000927152 SCV001464795 likely benign MHC class II deficiency 2020-11-15 no assertion criteria provided clinical testing

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