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

gnomAD frequency: 0.09896  dbSNP: rs4253013

Total submissions: 15

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
Labcorp Genetics (formerly Invitae), Labcorp	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
Breakthrough Genomics, Breakthrough Genomics	RCV001514007	SCV005319400	benign	not provided		criteria provided, single submitter	not provided
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