ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.2782A>C (p.Lys928Gln)

gnomAD frequency: 0.00285  dbSNP: rs3731177
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000861084 SCV001001303 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001150525 SCV001311598 benign Xeroderma pigmentosum, group C 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Genome-Nilou Lab RCV001150525 SCV002513993 benign Xeroderma pigmentosum, group C 2021-12-05 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257446 SCV002537512 likely benign Xeroderma pigmentosum 2020-11-17 criteria provided, single submitter curation
ITMI RCV000122330 SCV000086560 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV003905170 SCV004731072 benign XPC-related disorder 2024-08-14 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).

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