ClinVar Miner

Submissions for variant NM_006204.4(PDE6C):c.864+1G>A

dbSNP: rs1023522305
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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 Medical Molecular Genetics, University of Zurich RCV001353003 SCV001548097 likely pathogenic Cone dystrophy 4 2021-01-30 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504974 SCV000599031 likely pathogenic Achromatopsia 2015-01-01 no assertion criteria provided research

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