ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2645A>G (p.Tyr882Cys) (rs116431130)

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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 RCV000314874 SCV000362854 likely benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369202 SCV000362855 likely benign Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274635 SCV000362856 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing

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