ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.2088G>A (p.Val696=)

gnomAD frequency: 0.00042  dbSNP: rs182189497
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000861308 SCV001001581 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001146339 SCV001307077 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Sema4, Sema4 RCV002258001 SCV002537496 likely benign Xeroderma pigmentosum 2020-12-29 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003965637 SCV004788081 likely benign XPC-related disorder 2019-02-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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