ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) (rs4253211)

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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 RCV000116999 SCV000222808 benign not specified 2012-07-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116999 SCV000151120 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 RCV000403636 SCV000362764 benign Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301693 SCV000362765 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358890 SCV000362766 benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000116999 SCV000302376 benign not specified criteria provided, single submitter clinical testing

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