ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=) (rs2274097)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175124 SCV000226556 benign not specified 2015-01-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385102 SCV000362818 benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292842 SCV000362819 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331418 SCV000362820 benign Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000175124 SCV000302373 benign not specified criteria provided, single submitter clinical testing

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