ClinVar Miner

Submissions for variant NM_001079878.2(CNGA3):c.775C>T (p.Arg259Cys) (rs104893620)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Ophthalmic Research,University Tuebingen RCV000596449 SCV000700220 pathogenic Achromatopsia 2018-03-20 criteria provided, single submitter research
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626801 SCV000747504 likely pathogenic Abnormality of color vision; Macular degeneration; Photophobia 2017-01-01 criteria provided, single submitter clinical testing
OMIM RCV000010089 SCV000030310 pathogenic Achromatopsia 2 2001-10-01 no assertion criteria provided literature only

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