ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1286T>C (p.Val429Ala)

dbSNP: rs1692916541
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001270468 SCV001450758 likely pathogenic Achromatopsia 2 no assertion criteria provided research

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