ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2287-3T>C (rs780652533)

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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 RCV000374887 SCV000362881 uncertain significance Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280458 SCV000362882 uncertain significance Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335612 SCV000362883 uncertain significance Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing

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