ClinVar Miner

Submissions for variant NC_000016.10:g.(?_89748649)_(89758715_?)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 RCV001033115 SCV001196422 pathogenic Fanconi anemia 2019-12-28 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 30-33 of the FANCA gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with FANCA-related conditions. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). For these reasons, this variant has been classified as Pathogenic.

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