ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.7831G>A (p.Glu2611Lys) (rs281865151)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487653 SCV000575071 uncertain significance not provided 2016-10-31 criteria provided, single submitter clinical testing
Willoughby Group, Queen's University Belfast RCV000114801 SCV000148696 probable-pathogenic Keratoconus 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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