ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.411G>A (p.Leu137=) (rs4253013)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000117000 SCV000222812 benign not specified 2012-06-11 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000117000 SCV000302379 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330570 SCV000362980 benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368860 SCV000362981 benign COFS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271934 SCV000362982 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000117000 SCV000151121 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.

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