ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=) (rs4253207)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000170383 SCV000222800 likely benign not specified 2013-08-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355263 SCV000362809 likely benign Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262811 SCV000362810 likely benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301771 SCV000362811 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing

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