ClinVar Miner

Submissions for variant NM_001099857.5(IKBKG):c.519-2A>C

dbSNP: rs2071121693
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001310079 SCV001482533 likely pathogenic NEMO deleted exon 5-autoinflammatory syndrome (NEMO-NDAS) 2021-03-02 criteria provided, single submitter clinical testing This is a new condition described in PMID: 31874111. RNAseq confirmed exon 5 skipping. Also skewed X inactivation with majority of transcripts skipping exon 5.

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