ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.692_693insA (p.Ile232fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, Skane University Hospital Lund RCV005250978 SCV005901502 likely pathogenic Xeroderma pigmentosum 2025-01-20 criteria provided, single submitter clinical testing Observed in a homozygous state, at our lab, in a patient with matching phenotype. ACMG criteria used: PVS1, PM2

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