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

gnomAD frequency: 0.31596  dbSNP: rs2229760

Total submissions: 15

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
Labcorp Genetics (formerly Invitae), Labcorp	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
Breakthrough Genomics, Breakthrough Genomics	RCV001510062	SCV005319383	benign	not provided		criteria provided, single submitter	not provided
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