ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.1221A>C (p.Ser407=)

dbSNP: rs1949622831
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002158341 SCV002469156 likely benign Aniridia 1; Irido-corneo-trabecular dysgenesis 2022-07-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505835 SCV002804098 likely benign Aniridia 1; Foveal hypoplasia 1; Coloboma of optic nerve; Autosomal dominant keratitis; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; 11p partial monosomy syndrome; Coloboma, ocular, autosomal dominant 2022-03-28 criteria provided, single submitter clinical testing

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