Submissions for variant NM_004628.5(XPC):c.2028C>T (p.Tyr676=)

gnomAD frequency: 0.00805  dbSNP: rs2228004

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000885047	SCV001028470	benign	not provided	2024-09-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001146340	SCV001307078	benign	Xeroderma pigmentosum, group C	2018-01-12	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001192696	SCV001360984	benign	not specified	2019-10-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001146340	SCV002514001	benign	Xeroderma pigmentosum, group C	2021-12-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000885047	SCV005241620	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001192696	SCV001809107	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001192696	SCV001967616	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003910461	SCV004725510	benign	XPC-related disorder	2020-03-20	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).