ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.528A>G (p.Arg176=) (rs4253027)

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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 RCV000176986 SCV000228786 benign not specified 2015-05-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000176986 SCV000302381 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298107 SCV000362977 benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369229 SCV000362978 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277897 SCV000362979 benign COFS syndrome 2016-06-14 criteria provided, single submitter clinical testing

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