ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe) (rs61749682)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000356487 SCV000339210 likely benign not specified 2016-01-27 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000084834 SCV000692891 uncertain significance not provided 2017-09-01 criteria provided, single submitter clinical testing
Invitae RCV001084922 SCV001098382 likely benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2020-11-06 criteria provided, single submitter clinical testing
Retina International RCV000084834 SCV000116970 not provided not provided no assertion provided not provided

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