ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.4438_4440del (p.Ser1480del) (rs886047032)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668945 SCV000793628 uncertain significance DE SANCTIS-CACCHIONE SYNDROME; Cerebro-oculo-facio-skeletal syndrome; Cockayne syndrome B 2017-08-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315496 SCV000362728 uncertain significance Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000370155 SCV000362729 uncertain significance Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261470 SCV000362730 uncertain significance Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing

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