ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=) (rs886047034)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667349 SCV000791783 likely benign DE SANCTIS-CACCHIONE SYNDROME; Cerebro-oculo-facio-skeletal syndrome; Cockayne syndrome B 2017-05-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307447 SCV000362785 uncertain significance Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345920 SCV000362786 uncertain significance Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394239 SCV000362787 uncertain significance Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing

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