ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg) (rs9905402)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078320 SCV000110166 benign not specified 2016-06-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078320 SCV000302891 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282362 SCV001159043 benign none provided 2020-02-03 criteria provided, single submitter clinical testing
Invitae RCV001518411 SCV001727097 benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2020-12-05 criteria provided, single submitter clinical testing
Retina International RCV000084902 SCV000117038 not provided not provided no assertion provided not provided
Department of Ophthalmology and Visual Sciences Kyoto University RCV000084902 SCV000172508 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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