ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu) (rs141391984)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000406265 SCV000362953 likely benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307520 SCV000362954 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359960 SCV000362955 likely benign Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731973 SCV000859847 benign not specified 2018-03-20 criteria provided, single submitter clinical testing
Invitae RCV000871745 SCV001013454 benign not provided 2019-02-18 criteria provided, single submitter clinical testing

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