ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) (rs2228527)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000116998 SCV000222807 benign not specified 2012-06-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116998 SCV000226718 benign not specified 2014-12-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116998 SCV000151119 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000272009 SCV000362770 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329399 SCV000362771 benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367801 SCV000362772 benign Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000116998 SCV000302375 benign not specified criteria provided, single submitter clinical testing

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