ClinVar Miner

Submissions for variant NM_000494.4(COL17A1):c.460C>T (p.Arg154Ter)

gnomAD frequency: 0.00001  dbSNP: rs1564685400
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197379 SCV001368099 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,PM2,PP4.
Leeds Amelogenesis Imperfecta Research Group, University of Leeds RCV003314672 SCV004012862 pathogenic Amelogenesis imperfecta type 1A 2023-07-12 no assertion criteria provided research

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