ClinVar Miner

Variants in gene FKBP14

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Minimum submission review status: Collection method:
Minimum conflict level:
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 not provided total
13 12 129 104 16 3 254

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ehlers-Danlos syndrome, kyphoscoliotic type, 2 12 8 81 71 10 3 180
Cardiovascular phenotype 2 1 67 39 3 0 112
not provided 1 5 20 17 5 0 45
not specified 0 0 6 6 4 0 15
Ehlers-Danlos syndrome 0 0 3 3 1 0 7
FKBP14-related disorder 1 0 0 3 0 0 4
Congenital muscular dystrophy; Joint hypermobility; Thoracolumbar scoliosis; Pes valgus; Hypotonia 1 0 0 0 0 0 1
Hypotonia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 8 2 79 71 10 0 170
Ambry Genetics 2 1 67 39 3 0 112
GeneDx 1 3 9 18 6 0 37
CeGaT Center for Human Genetics Tuebingen 1 0 5 7 0 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 6 1 1 0 10
Mayo Clinic Laboratories, Mayo Clinic 1 1 6 0 0 0 8
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 3 3 1 0 7
OMIM 4 0 0 0 0 0 4
PreventionGenetics, part of Exact Sciences 1 0 0 3 0 0 4
Baylor Genetics 2 0 1 0 0 0 3
Eurofins Ntd Llc (ga) 0 1 1 0 1 0 3
GeneReviews 0 0 0 0 0 3 3
Athena Diagnostics 1 0 1 0 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 1 0 0 0 1 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 0 0 1 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 0 1
Revvity Omics, Revvity 1 0 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 1
Research Centre for Medical Genetics, Federal State Budgetary Scientific Institution 1 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 1 0 0 0 0 0 1
3billion 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Molecular Genetic Pathology Unit, University Of Rochester Medical Center 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1

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