ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.-87C>A (rs4253004)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000406707 SCV000363013 benign COFS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310480 SCV000363014 benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344561 SCV000363015 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing

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