ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.679C>T (p.Arg227Cys) (rs137910235)

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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 RCV000224777 SCV000281388 uncertain significance not provided 2015-11-23 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001262008 SCV001439372 uncertain significance Cerebrooculofacioskeletal syndrome 2 2020-08-26 criteria provided, single submitter research ACMG codes:PM2, PP3
Baylor Genetics RCV001294173 SCV001483002 uncertain significance Trichothiodystrophy 1, photosensitive 2018-12-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
ITMI RCV000120788 SCV000084952 not provided not specified 2013-09-19 no assertion provided reference population

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