ClinVar Miner

Submissions for variant NM_007035.4(KERA):c.1026del (p.Cys343fs)

dbSNP: rs386833984
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000049961 SCV002016788 likely pathogenic Cornea plana 2 2020-12-10 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000049961 SCV004806742 uncertain significance Cornea plana 2 2024-03-26 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049961 SCV000082370 probable-pathogenic Cornea plana 2 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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