ClinVar Miner

Submissions for variant NC_000009.12:g.(?_35076714)_(35077111_?)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 RCV001033520 SCV001196827 pathogenic Fanconi anemia 2019-12-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FANCG are known to be pathogenic (PMID: 12552564). This variant has not been reported in the literature in individuals with FANCG-related conditions. This variant is an out-of-frame deletion of the genomic region encompassing exon 6-7 of the FANCG gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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