ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.142C>T (p.Leu48Phe)

gnomAD frequency: 0.02177  dbSNP: rs2229089
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000348650 SCV000441387 benign Xeroderma pigmentosum, group C 2018-01-13 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.
Invitae RCV001521210 SCV001730500 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001521210 SCV001754520 benign not provided 2019-02-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28146470)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000122333 SCV002050954 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000348650 SCV002514023 benign Xeroderma pigmentosum, group C 2021-12-05 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315791 SCV004016291 likely benign Xeroderma pigmentosum group A 2023-07-07 criteria provided, single submitter clinical testing
ITMI RCV000122333 SCV000086563 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001521210 SCV001799219 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000122333 SCV001807134 benign not specified no assertion criteria provided clinical testing

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