ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.77G>A (p.Arg26Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV004560325 SCV005049342 likely pathogenic Aniridia 1 2024-02-02 criteria provided, single submitter clinical testing
OMIM RCV003883478 SCV004697969 pathogenic Coloboma, ocular, autosomal dominant 2024-03-01 no assertion criteria provided literature only

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