ClinVar Miner

Submissions for variant NM_000553.4(WRN):c.3785C>G (p.Thr1262Arg) (rs78488552)

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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 RCV000122293 SCV000229532 benign not specified 2017-03-08 criteria provided, single submitter clinical testing
ITMI RCV000122293 SCV000086520 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000231281 SCV000473354 uncertain significance Werner syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000231281 SCV000285569 benign Werner syndrome 2018-01-15 criteria provided, single submitter clinical testing

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