ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.1285del (p.Ser429fs) (rs776896038)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Ophthalmic Research,University Tuebingen RCV000498570 SCV000575791 pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504627 SCV000598863 likely pathogenic Abnormality of the eye 2015-01-01 no assertion criteria provided research Undetermined rare ocular disorder with frequency of less than eight patients

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