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
11 5 109 21 37 171

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Stuve-Wiedemann syndrome 7 2 100 14 17 139
not provided 4 1 11 6 13 35
not specified 0 0 1 1 8 9
Congenital anomalies of kidney and urinary tract 1 2 0 0 0 3
Hemophagocytic lymphohistiocytosis, familial, 2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 97 14 17 128
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 8 1 6 16
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 4 4 11
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 11 11
OMIM 6 0 0 0 0 6
Invitae 2 1 0 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
Baylor Miraca Genetics Laboratories, 1 0 1 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 0 2
GeneDx 1 0 1 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1

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