ClinVar Miner

Submissions for variant NC_000009.11:g.(?_97873735)_(97897794_?)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 RCV001384215 SCV001583609 pathogenic Fanconi anemia 2020-11-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555). This variant has not been reported in the literature in individuals with FANCC-related conditions. This variant is an out-of-frame deletion of the genomic region encompassing exons 8-13 of the FANCC gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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