ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.171G>C (p.Leu57Phe) (rs142007602)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000291828 SCV000386732 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000291828 SCV000626355 likely benign Fanconi anemia 2019-12-31 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767964 SCV000898681 uncertain significance not provided 2017-11-21 criteria provided, single submitter clinical testing FANCM NM_020937.3 exon 1 p.Leu57Phe (c.171G>C): This variant has not been reported in the literature but is present in 0.3% (354/126714) of European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs142007602). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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