ClinVar Miner

Submissions for variant NM_006204.4(PDE6C):c.2294A>G (p.Asp765Gly)

dbSNP: rs1554892199
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000664203 SCV000678434 uncertain significance Achromatopsia 2017-12-01 criteria provided, single submitter research

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