ClinVar Miner

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

gnomAD frequency: 0.31596  dbSNP: rs2229760
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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 RCV000116996 SCV000222797 benign not specified criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000116996 SCV000302371 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000291726 SCV000362842 benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000346580 SCV000362843 benign COFS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000392253 SCV000362844 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001510062 SCV001716998 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001510062 SCV001857209 benign not provided 2018-11-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001657739 SCV001876135 benign Cerebrooculofacioskeletal syndrome 1 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001657737 SCV001876136 benign Cockayne syndrome type 2 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001657738 SCV001876137 benign DE SANCTIS-CACCHIONE SYNDROME 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001657740 SCV001876138 benign UV-sensitive syndrome 1 2021-07-30 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.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000116996 SCV001958426 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000116996 SCV001973041 benign not specified no assertion criteria provided clinical testing

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