ClinVar Miner

Submissions for variant NC_000006.11:g.(?_35428309)_(35430711_?)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 RCV004578670 SCV005066172 uncertain significance Fanconi anemia complementation group E 2022-11-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with FANCE-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 8-9 of the FANCE gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein.

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