ClinVar Miner

Submissions for variant NM_006204.4(PDE6C):c.836T>C (p.Ile279Thr) (rs762152984)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV000664197 SCV000678428 likely pathogenic Achromatopsia 2017-12-01 criteria provided, single submitter research
OMIM RCV000761207 SCV000891123 pathogenic Achromatopsia 5 2019-03-15 no assertion criteria provided literature only

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