ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1761G>T (p.Thr587=) (rs144608959)

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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 RCV000405509 SCV000362913 likely benign Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298809 SCV000362914 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353565 SCV000362915 likely benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing

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