ClinVar Miner

Submissions for variant NM_005236.2(ERCC4):c.974-6T>C (rs201181735)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202807 SCV000258018 likely benign not specified 2015-02-13 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000202807 SCV000310929 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353369 SCV000394864 uncertain significance Xeroderma pigmentosum 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000964431 SCV001111637 benign not provided 2018-11-08 criteria provided, single submitter clinical testing

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