ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.1207+5G>A

dbSNP: rs2125964190
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763174 SCV001991775 uncertain significance not provided 2019-08-28 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge

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