ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6135+1G>A

dbSNP: rs2035114607
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001255342 SCV001431672 pathogenic Intellectual disability 2020-08-03 criteria provided, single submitter clinical testing The variant c.6135+1G>A, p.? was identified in an individual with neurodevelopmental disorder (NDD) and classified as Pathogenic according to ACMG guidelines. Inheritance for this variant was maternal.The variant likely explains the NDD in this individual.
Institute of Human Genetics, University of Leipzig Medical Center RCV001262195 SCV001439980 pathogenic Joubert syndrome 5 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.

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