ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2836G>A (p.Ala946Thr)

dbSNP: rs1975945845
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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 RCV001250848 SCV001426339 likely pathogenic Leber congenital amaurosis 1 no assertion criteria provided research

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