ClinVar Miner

Submissions for variant NM_006204.4(PDE6C):c.595A>G (p.Lys199Glu)

dbSNP: rs1554888858
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504665 SCV000599029 likely pathogenic Achromatopsia 2015-01-01 no assertion criteria provided research

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