ClinVar Miner

Submissions for variant NM_005236.2(ERCC4):c.2617A>G (p.Ile873Val) (rs2020957)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514744 SCV000610354 likely benign not provided 2017-06-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000120807 SCV000594577 likely benign not specified 2015-11-18 criteria provided, single submitter clinical testing
ITMI RCV000120807 SCV000084971 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000234732 SCV000288842 benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, complementation group Q 2017-08-19 criteria provided, single submitter clinical testing

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