ClinVar Miner

Variants in gene combination FBXO11, LOC100506235

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Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
1 2 68 101 7 164

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 1 0 60 97 6 157
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 2 6 2 0 10
Inborn genetic diseases 0 0 1 6 2 9
FBXO11-related disorder 0 0 2 2 0 4
Intellectual disability 0 0 0 2 0 2

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 1 0 47 92 6 146
CeGaT Center for Human Genetics Tuebingen 0 0 2 10 1 13
GeneDx 0 0 9 0 0 9
Ambry Genetics 0 0 1 6 2 9
PreventionGenetics, part of Exact Sciences 0 0 2 2 0 4
Breakthrough Genomics, Breakthrough Genomics 0 0 1 2 0 3
Baylor Genetics 0 0 2 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 2 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 2 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Variantyx, Inc. 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 1

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