ClinVar Miner

Submissions for variant NM_000223.4(KRT12):c.1148_1159del (p.Gln383_Val387delinsLeu)

dbSNP: rs2143257204
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV001731222 SCV001981634 uncertain significance Corneal dystrophy, Meesmann, 1 2021-09-24 criteria provided, single submitter clinical testing

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