ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3541G>C (p.Glu1181Gln)

dbSNP: rs1466311097
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199240 SCV001370290 uncertain significance Joubert syndrome 5 2019-06-24 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2.

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