ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.102G>A (p.Glu34=)

gnomAD frequency: 0.00007  dbSNP: rs72561774
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000895000 SCV001039017 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001147509 SCV001308336 uncertain significance 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV000895000 SCV004149245 benign not provided 2023-02-01 criteria provided, single submitter clinical testing XPC: BP4, BP7, BS1, BS2

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