ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.1872+1G>C

dbSNP: rs1559374923
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680142 SCV000807587 pathogenic Xeroderma pigmentosum, group C 2017-09-01 criteria provided, single submitter clinical testing This splice site variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory homozygous in a 15-year-old female with cafe-au-lait spots, freckling, and photosensitivity.
Revvity Omics, Revvity RCV000680142 SCV002017953 likely pathogenic Xeroderma pigmentosum, group C 2021-05-06 criteria provided, single submitter clinical testing
GeneDx RCV003314635 SCV004014153 likely pathogenic not provided 2023-06-21 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25326635, 32359129, 27535533)
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000680142 SCV001132881 likely pathogenic Xeroderma pigmentosum, group C 2019-01-29 no assertion criteria provided clinical testing

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