ClinVar Miner

Submissions for variant NM_018193.3(FANCI):c.557T>C (p.Leu186Pro) (rs1370113722)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767960 SCV000898677 uncertain significance Fanconi anemia, complementation group I 2018-02-05 criteria provided, single submitter clinical testing FANCI NM_001113378.1 exon 8 p.Leu186Pro (c.557T>C): This variant has not been reported in the literature but is present in 1/15304 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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