ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.1303_1309del (p.Leu435fs)

dbSNP: rs757946805
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000790520 SCV000929851 pathogenic Coloboma of optic nerve criteria provided, single submitter research
Mendelics RCV002249497 SCV002518446 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing

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