ClinVar Miner

Submissions for variant NM_000494.4(COL17A1):c.3156C>T (p.Gly1052=)

gnomAD frequency: 0.00001  dbSNP: rs760714959
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447515 SCV004175492 pathogenic Corneal dystrophy 2023-04-28 criteria provided, single submitter clinical testing
OMIM RCV000190897 SCV000245771 pathogenic Epithelial recurrent erosion dystrophy 2015-04-01 no assertion criteria provided literature only

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