ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.337G>A (p.Glu113Lys)

gnomAD frequency: 0.00001  dbSNP: rs281865144
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ClinVar version:
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 RCV000114798 SCV000148693 pathogenic Keratoconus 1 no assertion criteria provided not provided Converted during submission to Pathogenic.

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