Submissions for variant NM_000124.4(ERCC6):c.135C>G (p.Leu45=)

gnomAD frequency: 0.62551  dbSNP: rs2228524

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Claritas Genomics	RCV000116995	SCV000222781	benign	not specified	2012-04-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000116995	SCV000302367	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000367258	SCV000362995	benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000403290	SCV000362996	benign	Cockayne syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000309121	SCV000362997	benign	COFS syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514008	SCV001721739	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001657735	SCV001876161	benign	Cerebrooculofacioskeletal syndrome 1	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001657733	SCV001876162	benign	Cockayne syndrome type 2	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001657734	SCV001876163	benign	DE SANCTIS-CACCHIONE SYNDROME	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001657736	SCV001876164	benign	UV-sensitive syndrome 1	2021-07-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001514008	SCV001943556	benign	not provided	2019-02-06	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001514008	SCV005319402	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000116995	SCV000151116	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	RCV000116995	SCV001743990	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116995	SCV001954368	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000116995	SCV001969818	benign	not specified		no assertion criteria provided	clinical testing