ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.3123G>T (p.Ser1041=)

dbSNP: rs138925894
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 RCV000979546 SCV001127491 likely benign MHC class II deficiency 2023-12-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000979546 SCV001464797 likely benign MHC class II deficiency 2020-09-11 no assertion criteria provided clinical testing

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