ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.1074+139C>T

gnomAD frequency: 0.00003  dbSNP: rs1019883076
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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 RCV001354047 SCV001548563 uncertain significance Coloboma, ocular, autosomal dominant 2020-07-29 criteria provided, single submitter clinical testing

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