ClinVar Miner

Variants in gene FRMPD4

Minimum submission review status: Collection method:
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Gene type:
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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 14 282 105 38 414

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 3 2 157 59 31 243
Inborn genetic diseases 0 0 61 33 0 94
Intellectual disability, X-linked 104 6 11 48 3 2 69
not specified 0 0 30 15 9 53
FRMPD4-related disorder 0 0 9 18 4 31
Autism, susceptibility to, X-linked 4 0 0 0 2 0 2
Intellectual disability 0 0 0 1 0 1
Neurodevelopmental delay 0 1 0 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 1
X-linked complex neurodevelopmental disorder 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 1 0 111 1 2 115
Ambry Genetics 0 0 61 33 0 94
CeGaT Center for Human Genetics Tuebingen 1 1 24 38 0 64
Labcorp Genetics (formerly Invitae), Labcorp 1 0 6 15 26 48
PreventionGenetics, part of Exact Sciences 0 0 9 18 4 31
Genetic Services Laboratory, University of Chicago 0 0 15 9 3 27
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 13 6 0 20
Breakthrough Genomics, Breakthrough Genomics 0 0 2 3 9 14
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 8 0 0 10
Revvity Omics, Revvity 0 0 10 0 0 10
Baylor Genetics 0 0 8 0 0 8
Eurofins Ntd Llc (ga) 0 0 3 0 5 8
OMIM 4 0 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 4 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 0 4
3billion 0 2 2 0 0 4
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 3 0 0 3
Fulgent Genetics, Fulgent Genetics 0 1 0 2 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 1 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 2 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 3
New York Genome Center 0 0 3 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 3
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 0 2 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 1 2
Illumina Laboratory Services, Illumina 0 1 1 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 1 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 1 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 1 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Laboratoire Génétique Moléculaire, CHRU TOURS 0 0 2 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 1 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 0 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 1
Pediatric Lab, Suzhou Municipal Hospital 0 0 1 0 0 1
Genetics Department, Catlab 0 0 1 0 0 1

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