ClinVar Miner

Submissions for variant NM_000180.3(GUCY2D):c.2101C>T (p.Pro701Ser) (rs34598902)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173653 SCV000224788 benign not specified 2014-10-03 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%
PreventionGenetics RCV000173653 SCV000302885 likely benign not specified criteria provided, single submitter clinical testing
Retina International RCV000084851 SCV000116987 not provided not provided no assertion provided not provided

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