ClinVar Miner

Variants in gene combination FLNA, LOC107988032

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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
9 6 71 78 32 160

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 5 2 38 52 26 123
not provided 2 2 20 21 6 46
Familial thoracic aortic aneurysm and aortic dissection 0 0 8 29 1 38
not specified 0 0 3 9 5 15
FLNA-related condition 0 0 2 4 1 7
Heterotopia, periventricular, X-linked dominant 3 1 1 0 0 5
Inborn genetic diseases 0 0 3 0 0 3
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia-pigmentary defects syndrome; Frontometaphyseal dysplasia 1 0 0 1 0 1 2
Cardiovascular phenotype 0 0 1 0 1 2
FG syndrome 2 0 0 2 0 0 2
Frontometaphyseal dysplasia 1 0 1 1 0 0 2
Abnormality of neuronal migration 0 0 0 0 1 1
Cardiac valvular dysplasia, X-linked 0 0 1 0 0 1
Connective tissue disorder 0 0 0 1 0 1
Developmental delay 0 0 1 0 0 1
History of neurodevelopmental disorder 0 0 0 0 1 1
Macrothrombocytopenia 0 0 1 0 0 1
Patent foramen ovale; Dysplastic corpus callosum; Patent ductus arteriosus 1 0 0 0 0 1
Seizure 0 0 1 0 0 1
Thrombocytopenia 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 2 38 52 26 123
Ambry Genetics 0 0 12 29 2 43
GeneDx 1 1 9 21 8 40
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 5 2 2 9
PreventionGenetics, part of Exact Sciences 0 0 2 4 2 8
Eurofins Ntd Llc (ga) 1 0 4 1 2 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 1 3 6
CeGaT Center for Human Genetics Tuebingen 0 0 1 5 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 2 2 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 1 1 3
Claritas Genomics 1 0 0 0 1 2
Revvity Omics, Revvity 0 1 1 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 2
OMIM 1 0 0 0 0 1
Baylor Genetics 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 0 1 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 0 1 1
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 0 0 0 0 1 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 1 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 1 0 0 1

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