ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.997G>T (p.Glu333Ter)

dbSNP: rs755999834
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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 RCV001250828 SCV001426315 pathogenic Leber congenital amaurosis 1 no assertion criteria provided research

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