ClinVar Miner

Submissions for variant NM_020738.4(KIDINS220):c.2849-25T>A

gnomAD frequency: 0.97631  dbSNP: rs12476359
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001674261 SCV001886200 benign not provided 2021-05-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730940 SCV001981037 benign Spastic paraplegia, intellectual disability, nystagmus, and obesity 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730941 SCV001981038 benign Ventriculomegaly and arthrogryposis 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001674261 SCV005245405 benign not provided criteria provided, single submitter not provided

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