ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.1780C>T (p.Arg594Cys)

gnomAD frequency: 0.00126  dbSNP: rs183238369
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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 RCV000861309 SCV001001582 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001150642 SCV001311730 benign Xeroderma pigmentosum, group C 2017-11-14 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 RCV001150642 SCV002514006 benign Xeroderma pigmentosum, group C 2021-12-05 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257449 SCV002537487 uncertain significance Xeroderma pigmentosum 2021-09-17 criteria provided, single submitter curation
Breakthrough Genomics, Breakthrough Genomics RCV000861309 SCV005264622 likely benign not provided criteria provided, single submitter not provided
ITMI RCV000122344 SCV000086574 not provided not specified 2013-09-19 no assertion provided reference population

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