ClinVar Miner

Submissions for variant NM_000180.3(GUCY2D):c.2513G>A (p.Arg838His) (rs61750173)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Klinikum rechts der Isar RCV000009951 SCV000680254 pathogenic Cone-rod dystrophy 6 2017-12-07 criteria provided, single submitter clinical testing
OMIM RCV000009951 SCV000030172 pathogenic Cone-rod dystrophy 6 2003-02-01 no assertion criteria provided literature only
Retina International RCV000084863 SCV000116999 not provided not provided no assertion provided not provided
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504851 SCV000598721 likely pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research
Human Genetics - Radboudumc,Radboudumc RCV000009951 SCV000804657 pathogenic Cone-rod dystrophy 6 2016-09-01 no assertion criteria provided clinical testing
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787614 SCV000926598 uncertain significance Progressive cone dystrophy (without rod involvement) 2018-04-01 no assertion criteria provided research

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