ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) (rs4253208)

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Total submissions: 9
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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 Clinical Services Laboratory,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 Clinical Services Laboratory,Illumina RCV000001776 SCV000362801 likely benign Cockayne syndrome B 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 Clinical Services Laboratory,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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000170384 SCV000863299 benign not specified 2018-09-11 criteria provided, single submitter clinical testing
Invitae RCV000224059 SCV001013812 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000988354 SCV001138042 uncertain significance DE SANCTIS-CACCHIONE SYNDROME 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000001776 SCV000021932 uncertain significance Cockayne syndrome B 1998-01-01 no assertion criteria provided literature only

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