ClinVar Miner

Submissions for variant NM_001079878.2(CNGA3):c.793C>T (p.Arg265Trp) (rs104893613)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415133 SCV000492977 likely pathogenic Monochromacy 2014-07-21 criteria provided, single submitter clinical testing
OMIM RCV000010082 SCV000030303 pathogenic Achromatopsia 2 2001-10-01 no assertion criteria provided literature only
Human Genetics - Radboudumc,Radboudumc RCV000010082 SCV000804621 pathogenic Achromatopsia 2 2016-09-01 no assertion criteria provided clinical testing

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