ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg)

gnomAD frequency: 0.18890  dbSNP: rs2228529
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000117001 SCV000222814 benign not specified 2012-06-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000117001 SCV000302380 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000346112 SCV000362740 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000402619 SCV000362741 benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000292311 SCV000362742 benign COFS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000117001 SCV000700587 benign not specified 2016-11-15 criteria provided, single submitter clinical testing
Invitae RCV001510481 SCV001717524 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001510481 SCV001900405 benign not provided 2018-10-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117001 SCV000151122 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000117001 SCV001743835 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000117001 SCV001957228 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000117001 SCV001968871 benign not specified no assertion criteria provided clinical testing

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