ClinVar Miner

Submissions for variant NC_000016.10:g.(?_89791397)_(89792553_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546093 SCV000626140 pathogenic Fanconi anemia 2017-02-28 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 12-14 of the FANCA gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, 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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