ClinVar Miner

Submissions for variant NM_000180.3(GUCY2D):c.2512C>T (p.Arg838Cys) (rs61750172)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Ophthalmology and Visual Sciences Kyoto University RCV000009949 SCV000172507 pathogenic Cone-rod dystrophy 6 no assertion criteria provided not provided Converted during submission to Pathogenic.
Human Genetics - Radboudumc,Radboudumc RCV000009949 SCV000804656 pathogenic Cone-rod dystrophy 6 2016-09-01 no assertion criteria provided clinical testing
OMIM RCV000009949 SCV000030170 pathogenic Cone-rod dystrophy 6 2003-02-01 no assertion criteria provided literature only
Retina International RCV000084862 SCV000116998 not provided not provided no assertion provided not provided

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