ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1821+7C>T (rs4253132)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000170371 SCV000222786 benign not specified 2012-04-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404616 SCV000362910 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302397 SCV000362911 benign Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357202 SCV000362912 benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000170371 SCV000302368 benign not specified criteria provided, single submitter clinical testing

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