ClinVar Miner

Variants in gene combination FOXP1, LOC126806714

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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
11 12 20 24 2 63

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 9 3 17 23 2 52
Intellectual disability-severe speech delay-mild dysmorphism syndrome 3 9 2 0 0 14
Inborn genetic diseases 2 0 1 0 0 3
FOXP1-related disorder 0 1 0 1 0 2
See cases 0 1 0 0 0 1
not specified 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 3 0 12 22 0 37
GeneDx 7 3 6 1 2 19
Ambry Genetics 2 0 1 0 0 3
Genetic Services Laboratory, University of Chicago 1 0 1 0 0 2
PreventionGenetics, part of Exact Sciences 0 1 0 1 0 2
MGZ Medical Genetics Center 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 0 0 2
CeGaT Center for Human Genetics Tuebingen 1 0 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 2
GenomeConnect - Simons Searchlight 1 1 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 1
3billion 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 1 0 0 0 0 1

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