ClinVar Miner

Submissions for variant NC_000016.10:g.(?_13920156)_(13948357_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000819225 SCV000959872 pathogenic Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2018-07-26 criteria provided, single submitter clinical testing Loss-of-function variants in ERCC4 are known to be pathogenic (PMID: 9580660). A gross deletion of the genomic region encompassing the full coding sequence of the ERCC4 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with ERCC4-related disease. For these reasons, this variant has been classified as Pathogenic.

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