ClinVar Miner

Submissions for variant NM_005236.2(ERCC4):c.1984T>C (p.Ser662Pro) (rs2020955)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000120806 SCV000310921 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355415 SCV000394878 likely benign Xeroderma pigmentosum 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000466960 SCV000559240 benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, complementation group Q 2017-08-03 criteria provided, single submitter clinical testing
ITMI RCV000120806 SCV000084970 not provided not specified 2013-09-19 no assertion provided reference population

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