ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.1236A>G (p.Thr412=)

gnomAD frequency: 0.00002  dbSNP: rs771403545
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
Illumina Laboratory Services, Illumina RCV000360375 SCV000348307 uncertain significance MHC class II deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000360375 SCV001703043 likely benign MHC class II deficiency 2023-12-25 criteria provided, single submitter clinical testing

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