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
96 59 451 623 109 1253

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 88 30 165 601 84 942
Stuve-Wiedemann syndrome 11 5 179 35 60 277
Stüve-Wiedemann syndrome 1 12 29 125 15 10 186
Inborn genetic diseases 0 0 74 2 0 76
Connective tissue disorder 0 0 17 3 7 27
LIFR-related disorder 0 0 1 16 4 21
not specified 0 0 3 3 7 13
Congenital anomaly of kidney and urinary tract 1 0 3 0 0 4
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: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 87 29 135 549 42 842
Illumina Laboratory Services, Illumina 0 0 160 13 40 213
Fulgent Genetics, Fulgent Genetics 5 25 120 6 1 157
GeneDx 3 1 22 45 41 112
Ambry Genetics 0 0 74 2 0 76
Natera, Inc. 3 2 17 20 17 59
Breakthrough Genomics, Breakthrough Genomics 0 0 10 18 26 54
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 10 11 18 39
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 3 9 0 13
Genome-Nilou Lab 0 0 0 0 9 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 3 2 1 8
OMIM 6 0 0 0 0 6
Revvity Omics, Revvity 3 2 1 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 5 0 0 6
Baylor Genetics 1 0 2 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 1 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 1 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
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
3billion 1 0 0 1 0 2
Centogene AG - the Rare Disease Company 1 0 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 1 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 0 0 1 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
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 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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