ClinVar Miner

Submissions for variant NM_001042475.3(CEP85L):c.232+1G>T

dbSNP: rs1774227158
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001374914 SCV001572201 pathogenic Neurodevelopmental disorder 2021-02-24 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV001257958 SCV001434771 likely pathogenic Posterior Predominant Lissencephaly no assertion criteria provided research

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