Submissions for variant NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp)

gnomAD frequency: 0.17598  dbSNP: rs2228528

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Claritas Genomics	RCV000116994	SCV000222779	benign	not specified	2012-06-11	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000116994	SCV000230846	benign	not specified	2015-01-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000116994	SCV000302365	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000375364	SCV000362944	benign	COFS syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000278377	SCV000362945	benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000335722	SCV000362946	benign	Cockayne syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001519187	SCV001728012	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001657731	SCV001876152	benign	Cerebrooculofacioskeletal syndrome 1	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001657729	SCV001876153	benign	Cockayne syndrome type 2	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001657730	SCV001876154	benign	DE SANCTIS-CACCHIONE SYNDROME	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001657732	SCV001876156	benign	UV-sensitive syndrome 1	2021-07-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001519187	SCV001943554	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25026993, 20044625)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000116994	SCV002051101	likely benign	not specified	2021-12-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001519187	SCV005220692	likely benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000116994	SCV000151115	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+	RCV000116994	SCV001953256	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000116994	SCV001967543	benign	not specified		no assertion criteria provided	clinical testing