XPC and xeroderma pigmentosum: The only other pathogenic variant identified was the c.1001 C > A, p.(Pro334His) in the XPC gene in UL sample S07, which is a known pathogenic variant (dbSNP rs74737358) causing the recessively inherited xeroderma pigmentosum (OMIM #278720) when inherited with a second pathogenic variant on the other allele.