ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.3088C>T (p.Leu1030=)

gnomAD frequency: 0.00001  dbSNP: rs763766993
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 RCV001277820 SCV001665290 likely benign MHC class II deficiency 2023-10-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277820 SCV001464796 uncertain significance MHC class II deficiency 2020-08-14 no assertion criteria provided clinical testing

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