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
Human Genetics - Radboudumc,Radboudumc RCV000009951 SCV000804657 pathogenic Cone-rod dystrophy 6 2016-09-01 no assertion criteria provided clinical testing
Institute of Human Genetics,Klinikum rechts der Isar RCV000009951 SCV000680254 pathogenic Cone-rod dystrophy 6 2017-12-07 criteria provided, single submitter 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
NIHR Bioresource Rare Diseases,University of Cambridge RCV000504851 SCV000598721 likely pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research
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

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