Submissions for variant NM_000400.4(ERCC2):c.468A>C (p.Arg156=)

gnomAD frequency: 0.64842  dbSNP: rs238406

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000242247	SCV000304036	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000323397	SCV000413592	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	RCV000242247	SCV000539114	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
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514553	SCV001722422	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001514553	SCV001849742	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27888704, 25209577, 15896456, 18230301)
Genome-Nilou Lab	RCV001658175	SCV001876107	benign	Cerebrooculofacioskeletal syndrome 2	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001658176	SCV001876108	benign	Trichothiodystrophy 1, photosensitive	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000323397	SCV001876109	benign	Xeroderma pigmentosum, group D	2021-07-30	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000323397	SCV004017469	benign	Xeroderma pigmentosum, group D	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001514553	SCV005310399	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000242247	SCV001741306	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000242247	SCV001964880	benign	not specified		no assertion criteria provided	clinical testing