ClinVar Miner

Submissions for variant NM_000553.5(WRN):c.2500C>T (p.Arg834Cys) (rs3087425)

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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 RCV000122280 SCV000227777 benign not specified 2015-01-28 criteria provided, single submitter clinical testing
GeneReviews RCV000032137 SCV000055695 unknown significance Werner syndrome 2011-11-17 no assertion criteria provided curation Converted during submission to Uncertain significance.
ITMI RCV000122280 SCV000086505 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000032137 SCV000285538 benign Werner syndrome 2018-01-04 criteria provided, single submitter clinical testing

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