ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2287-4G>A (rs375617750)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000729619 SCV000857294 uncertain significance not provided 2017-10-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371562 SCV000362884 uncertain significance Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295862 SCV000362885 uncertain significance Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350825 SCV000362886 uncertain significance Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing

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