ClinVar Miner

Submissions for variant NM_001099857.5(IKBKG):c.518+866C>T

dbSNP: rs2071101767
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
OMIM RCV000757923 SCV000886436 pathogenic IMMUNODEFICIENCY 33, MALE-RESTRICTED 2024-07-18 no assertion criteria provided literature only
OMIM RCV001172475 SCV001335505 pathogenic Incontinentia pigmenti syndrome 2024-07-18 no assertion criteria provided literature only

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