ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) (rs13181)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000120777 SCV000304034 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282755 SCV000413560 benign Xeroderma pigmentosum, group D 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000120777 SCV000539111 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency, variant associated with reduced cancer risk
Invitae RCV001514550 SCV001722419 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
ITMI RCV000120777 SCV000084941 not provided not specified 2013-09-19 no assertion provided reference population
Database of Curated Mutations (DoCM) RCV000436606 SCV000505740 not provided Osteosarcoma 2016-03-10 no assertion provided literature only
Database of Curated Mutations (DoCM) RCV000418924 SCV000505741 not provided Non-small cell lung cancer 2016-03-10 no assertion provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000120777 SCV001742024 benign not specified no assertion criteria provided clinical testing

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