ClinVar Miner

Submissions for variant NM_018192.4(P3H2):c.1782G>A (p.Trp594Ter)

dbSNP: rs2108908334
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001806438 SCV002054032 pathogenic Myopia, high, with cataract and vitreoretinal degeneration criteria provided, single submitter clinical testing

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