ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.625del (p.Asp209fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust RCV004017180 SCV004814229 pathogenic Developmental and epileptic encephalopathy 94 2021-04-19 criteria provided, single submitter clinical testing Criteria Codes: PVS1 PM2

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