ClinVar Miner

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

gnomAD frequency: 0.09896  dbSNP: rs4253013
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Total submissions: 14
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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, part of Exact Sciences RCV000117000 SCV000302379 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000330570 SCV000362980 benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368860 SCV000362981 benign COFS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000271934 SCV000362982 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001514007 SCV001721738 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001657743 SCV001876157 benign Cerebrooculofacioskeletal syndrome 1 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001657741 SCV001876158 benign Cockayne syndrome type 2 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001657742 SCV001876159 benign DE SANCTIS-CACCHIONE SYNDROME 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001657744 SCV001876160 benign UV-sensitive syndrome 1 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001514007 SCV001901484 benign not provided 2018-10-09 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.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000117000 SCV001957340 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000117000 SCV001965481 benign not specified no assertion criteria provided clinical testing

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