ClinVar Miner

Submissions for variant IKBKG, 2-BP DEL, 1182TT

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV001172478 SCV001335508 pathogenic ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED 2023-12-14 no assertion criteria provided literature only
OMIM RCV001172479 SCV001335509 pathogenic Incontinentia pigmenti syndrome 2023-12-14 no assertion criteria provided literature only

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