ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg) (rs368728467)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625851 SCV000746419 pathogenic Cockayne syndrome B 2017-12-18 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000625851 SCV001429192 pathogenic Cockayne syndrome B 2018-11-14 criteria provided, single submitter clinical testing

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