ClinVar Miner

Submissions for variant NM_001348800.3(ZBTB20):c.11+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, Medical Genetics RCV003153208 SCV003842103 likely pathogenic Primrose syndrome 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to alter splicing and result in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. However, the prediction score for the potential new donor gain position is not significant and therefore functional studies should be performed to observe the exact consequence. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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