ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1289+8G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breda Genetics srl RCV001730159 SCV001977020 uncertain significance Koolen-de Vries syndrome 2020-09-22 criteria provided, single submitter clinical testing The variant c.1289+8G>C in the KANSL1 gene has not been reported in dbSNP, gnomAD, 1000 Genomes, NHLI Exome Sequencing Project (ESP) or ClinVar. The variant falls in the consensus region of the donor splice site of intron 2. According to Human Splicing Finder 3.0 (HSF 3.0), the variant has probably no significant impact on splicing. However, especially in the context of variable expressivity, it is recommended to use in silico prediction with caution.

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