Submissions for variant NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)

dbSNP: rs4253208

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Claritas Genomics	RCV000170384	SCV000222801	uncertain significance	not specified	2013-08-26	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224059	SCV000281421	likely benign	not provided	2014-09-15	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Illumina Laboratory Services, Illumina	RCV000345279	SCV000362800	likely benign	Cerebrooculofacioskeletal syndrome 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000001776	SCV000362801	likely benign	Cockayne syndrome type 2	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000291488	SCV000362802	likely benign	Age related macular degeneration 5	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Eurofins Ntd Llc (ga)	RCV000170384	SCV000863299	benign	not specified	2018-09-11	criteria provided, single submitter	clinical testing
Invitae	RCV000224059	SCV001013812	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000988354	SCV001138042	benign	DE SANCTIS-CACCHIONE SYNDROME	2023-08-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000224059	SCV001848333	benign	not provided	2021-01-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 9443879, 20981092, 22995991)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000170384	SCV002050857	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224059	SCV004127657	benign	not provided	2022-04-01	criteria provided, single submitter	clinical testing	ERCC6: BP4, BS1, BS2
OMIM	RCV000001776	SCV000021932	uncertain significance	Cockayne syndrome type 2	1998-01-01	no assertion criteria provided	literature only