ClinVar Miner

Variants in gene LIFR

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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
93 39 352 601 119 1133

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 85 30 146 584 82 906
Stuve-Wiedemann syndrome 11 5 181 35 60 279
Inborn genetic diseases 0 0 42 1 0 43
Stüve-Wiedemann syndrome 1 8 6 9 9 9 41
Connective tissue disorder 0 0 17 3 7 27
LIFR-related condition 0 0 1 16 4 21
not specified 0 0 1 2 7 10
Congenital anomaly of kidney and urinary tract 1 0 2 0 0 3
Familial hemophagocytic lymphohistiocytosis 2 1 0 0 0 0 1
Global developmental delay; Absent speech; Developmental regression; Abnormal cerebral white matter morphology; Epileptic encephalopathy; Hypotonia 0 0 1 0 0 1
Hereditary breast ovarian cancer syndrome 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 84 29 130 534 41 818
Illumina Laboratory Services, Illumina 0 0 162 13 40 215
GeneDx 3 1 14 45 41 104
Natera, Inc. 3 2 17 20 17 59
Ambry Genetics 0 0 42 1 0 43
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 9 10 18 37
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 17 3 7 27
PreventionGenetics, part of Exact Sciences 0 0 1 16 4 21
Eurofins Ntd Llc (ga) 1 0 8 1 6 16
CeGaT Center for Human Genetics Tuebingen 1 0 2 9 0 12
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 11 11
Fulgent Genetics, Fulgent Genetics 1 1 6 2 1 11
Genome-Nilou Lab 0 0 0 0 9 9
OMIM 6 0 0 0 0 6
Revvity Omics, Revvity 3 2 1 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 1 1 1 5
Baylor Genetics 1 0 2 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 1 3
Weber Lab, Hannover Medical School 1 0 2 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 1 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 2 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Blueprint Genetics 1 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 1 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 0 0 1 0 0 1
3billion 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 1 0 1
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 1

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