Submissions for variant NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly)

gnomAD frequency: 0.19565  dbSNP: rs2228527

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Claritas Genomics	RCV000116998	SCV000222807	benign	not specified	2012-06-29	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000116998	SCV000226718	benign	not specified	2014-12-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000116998	SCV000302375	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000272009	SCV000362770	benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000329399	SCV000362771	benign	Cockayne syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000367801	SCV000362772	benign	COFS syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV001519185	SCV001728010	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001519185	SCV001835169	benign	not provided	2018-10-22	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 17119055, 20220177, 9443879)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000116998	SCV002051083	likely benign	not specified	2021-12-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000116998	SCV000151119	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	RCV000116998	SCV001741883	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116998	SCV001953980	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000116998	SCV001969923	benign	not specified		no assertion criteria provided	clinical testing