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

gnomAD frequency: 0.31719  dbSNP: rs13181

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000120777	SCV000304034	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, 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, Mass General Brigham 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	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001514550	SCV001851581	benign	not provided	2019-02-13	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24645270, 17630853, 27306318, 24325908, 26482462, 26001739, 25873778, 24101192, 25113251, 24362511, 25023406, 24787743, 22183071, 24892639, 29723101, 29989875, 24763305, 26354780, 24556168, 26086338, 24486506, 24368330, 9950243, 18230301, 19051060, 24728327, 20514470, 22844363, 19027756, 21617750, 21667112, 21559836, 19669592, 22525558, 19116388, 18534129, 21390047, 19615095, 20375340, 19055600, 18641418, 22179996, 22184993, 20627704, 14630517, 10753184, 19919686, 22496165, 19707883, 22797977, 20204500, 27153395)
Genome-Nilou Lab	RCV001657757	SCV001876094	benign	Cerebrooculofacioskeletal syndrome 2	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001657758	SCV001876095	benign	Trichothiodystrophy 1, photosensitive	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000282755	SCV001876096	benign	Xeroderma pigmentosum, group D	2021-07-30	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000120777	SCV002051278	likely benign	not specified	2021-12-03	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	Bone osteosarcoma	2016-03-10	no assertion provided	literature only
Database of Curated Mutations (DoCM)	RCV000418924	SCV000505741	not provided	Non-small cell lung carcinoma	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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000120777	SCV001970546	benign	not specified		no assertion criteria provided	clinical testing