ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.5681A>T (p.Gln1894Leu)

dbSNP: rs281865150
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Willoughby Group, Queen's University Belfast RCV000114800 SCV000148695 pathogenic Keratoconus 1 no assertion criteria provided not provided Converted during submission to Pathogenic.

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