ClinVar Miner

Submissions for variant NM_001190274.2(FBXO11):c.149AGC[8] (p.Gln56dup)

dbSNP: rs746953076
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001509633 SCV001716458 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001509633 SCV002010655 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001509633 SCV003916110 benign not provided 2025-01-01 criteria provided, single submitter clinical testing FBXO11: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003405461 SCV004114382 uncertain significance FBXO11-related disorder 2023-08-02 criteria provided, single submitter clinical testing The FBXO11 c.167_169dupAGC variant is predicted to result in an in-frame duplication (p.Gln56dup). To our knowledge, this variant has not been reported in the literature. This variant is reported in 1.4% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-48132690-G-GGCT), however this variant is found within a low complexity region of the genome and frequency data should be interpreted with caution. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252491 SCV001428248 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001509633 SCV001740744 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001509633 SCV001798310 likely benign not provided no assertion criteria provided clinical testing

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