ClinVar Miner

Submissions for variant NC_000009.11:g.(?_98009694)_(98011661_?)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 RCV004581831 SCV005065935 pathogenic Fanconi anemia 2023-11-04 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2-3 of the FANCC 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 FANCC are known to be pathogenic (PMID: 17924555). A similar copy number variant has been observed in individual(s) with Fanconi Anemia (PMID: 20869034). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic.

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