ClinVar Miner

Submissions for variant NM_000107.3(DDB2):c.1234+1del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003314485 SCV004013878 uncertain significance Xeroderma pigmentosum, group E criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Splice variant. The predicted truncated protein may be shortened by less than 10%. In silico tools predict the variant to alter splicing and produce an abnormal transcript (SpliceAI: 0.95). This variant is classified as Uncertain significance according to the recommendation of ACMG/AMP guideline.

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