ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) (rs34598902)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000173653 SCV000224788 benign not specified 2014-10-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000173653 SCV000302885 likely benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000173653 SCV000539262 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in 1000Genomes: 180/2178=8.2%
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283616 SCV001157142 benign none provided 2020-08-25 criteria provided, single submitter clinical testing
Invitae RCV001518412 SCV001727098 benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2020-11-26 criteria provided, single submitter clinical testing
Retina International RCV000084851 SCV000116987 not provided not provided no assertion provided not provided
Department of Ophthalmology and Visual Sciences Kyoto University RCV000084851 SCV000172506 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
Laboratory of Genetics in Ophthalmology,Institut Imagine RCV001250835 SCV001426325 likely benign Leber congenital amaurosis 1 no assertion criteria provided research

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