ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) (rs2229760)

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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 RCV000116996 SCV000222797 benign not specified criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116996 SCV000151117 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 RCV000291726 SCV000362842 benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346580 SCV000362843 benign Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392253 SCV000362844 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000116996 SCV000302371 benign not specified criteria provided, single submitter clinical testing

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