ClinVar Miner

Variants in gene LIFR

Minimum submission review status: Collection method:
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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
33 14 195 126 72 403

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Stüve-Wiedemann syndrome 8 4 178 27 54 260
not provided 27 9 19 111 27 186
not specified 0 0 0 1 6 7
Congenital anomalies of kidney and urinary tract 1 2 0 0 0 3
Familial hemophagocytic lymphohistiocytosis 2 1 0 0 0 0 1
Global developmental delay; Absent speech; Developmental regression; Abnormality of the cerebral white matter; Epileptic encephalopathy; Muscular hypotonia 0 0 1 0 0 1
Hereditary breast and ovarian cancer syndrome 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 162 13 40 215
Invitae 26 8 8 107 16 165
Natera, Inc. 0 1 12 10 8 31
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 6 8 15 29
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 8 1 6 16
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 11 11
OMIM 6 0 0 0 0 6
Baylor Genetics 1 0 2 0 0 3
GeneDx 1 1 1 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 2 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 0 2
Institute of Human Genetics,Cologne University 0 1 1 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 0 1 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1
Molecular Oncology Research Center,Barretos Cancer Hospital 0 0 1 0 0 1

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