ClinVar Miner

Submissions for variant NM_000124.3(ERCC6):c.1482C>T (p.Asp494=) (rs150762517)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667559 SCV000792031 likely benign DE SANCTIS-CACCHIONE SYNDROME; Cerebro-oculo-facio-skeletal syndrome; Cockayne syndrome B 2017-06-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289491 SCV000362922 uncertain significance Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326056 SCV000362923 uncertain significance Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380599 SCV000362924 uncertain significance Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing

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