ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.6107-7T>A

dbSNP: rs766634428
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001757241 SCV001996829 uncertain significance not provided 2019-11-08 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Baylor Genetics RCV003147644 SCV003835416 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-08-16 criteria provided, single submitter clinical testing

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