ClinVar Miner

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

gnomAD frequency: 0.09880  dbSNP: rs9905402
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078320 SCV000110166 benign not specified 2016-06-23 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000078320 SCV000302891 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000084902 SCV001159043 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Invitae RCV001518411 SCV001727097 benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000084902 SCV001889693 benign not provided 2019-01-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24066033, 27884173, 16123401, 20981092, 18055820, 15111605)
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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