ClinVar Miner

Submissions for variant NC_000009.12:g.(?_95107056)_(95107279_?)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 RCV000819897 SCV000960582 uncertain significance Fanconi anemia 2023-06-15 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 FANCC-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 14 of the FANCC gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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