ClinVar Miner

Submissions for variant NC_000006.11:g.(?_35420323)_(35420590_?)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 RCV004578669 SCV005066171 pathogenic Fanconi anemia complementation group E 2023-12-19 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1 of the FANCE gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCE are known to be pathogenic (PMID: 11001585, 17924555). This variant has not been reported in the literature in individuals affected with FANCE-related conditions. For these reasons, this variant has been classified as Pathogenic.

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