ClinVar Miner

Submissions for variant NM_001099857.5(IKBKG):c.363_367del (p.Leu122fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003328543 SCV004035262 likely pathogenic Incontinentia pigmenti syndrome 2021-06-30 criteria provided, single submitter clinical testing Criteria applied: PVS1, PM2_SUP. This variant was confirmed on IKBKG via longrange PCR and inherited from the affected mother. The child had typical symptoms of IP.

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