ClinVar Miner

Variants in gene INF2

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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
17 10 138 114 56 299

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 1 0 78 35 28 142
not specified 0 0 8 55 39 100
Focal segmental glomerulosclerosis 0 0 17 37 19 73
not provided 2 7 24 1 11 45
Focal segmental glomerulosclerosis 5 10 0 6 0 4 20
Charcot-Marie-Tooth disease 0 0 16 0 0 16
Charcot-Marie-Tooth disease, dominant intermediate E 6 2 0 0 0 8
Oligohydramnios; Premature birth; Small for gestational age; Birth length less than 3rd percentile; Motor polyneuropathy; Interosseus muscle atrophy; Mixed demyelinating and axonal polyneuropathy; Progressive pes cavus 0 0 1 0 0 1
Proteinuria 0 0 1 0 0 1
Proteinuria; Renal insufficiency; Focal segmental glomerulosclerosis; Hypertension 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 1 78 35 28 143
GeneDx 0 1 18 52 36 107
Illumina Clinical Services Laboratory,Illumina 0 0 18 37 19 74
PreventionGenetics 0 0 0 3 24 27
Athena Diagnostics Inc 1 1 1 1 12 16
Inherited Neuropathy Consortium 0 0 16 0 0 16
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 7 0 5 0 0 12
OMIM 11 0 0 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 6 1 3 10
Gharavi Laboratory,Columbia University 1 5 4 0 0 10
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 2 0 7 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 1
Blueprint Genetics, 0 0 1 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 0 1 0 0 0 1

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