ClinVar Miner

Submissions for variant NM_000494.4(COL17A1):c.2062C>T (p.Arg688Ter)

gnomAD frequency: 0.00001  dbSNP: rs768415627
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197378 SCV001368098 pathogenic Epithelial recurrent erosion dystrophy 2019-04-03 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PP4,PM2.

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