ClinVar Miner

Variants in gene combination LOC101928008, SBF2

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Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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 not provided total
10 12 238 160 25 1 425

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease type 4 8 3 186 139 11 0 346
not provided 0 3 40 17 19 0 76
Inborn genetic diseases 0 0 60 14 0 0 74
Charcot-Marie-Tooth disease type 4B2 1 2 30 9 5 1 47
not specified 0 0 12 11 6 0 28
Charcot-Marie-Tooth disease 0 0 7 8 6 0 21
SBF2-related condition 0 0 2 5 0 0 7
Tip-toe gait 0 4 0 0 0 0 4
Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 8 3 186 138 11 0 346
Ambry Genetics 0 0 60 14 0 0 74
GeneDx 0 0 15 21 19 0 55
Illumina Laboratory Services, Illumina 0 0 23 4 4 0 31
Athena Diagnostics Inc 0 0 19 2 6 0 27
Molecular Genetics Laboratory, London Health Sciences Centre 0 0 7 8 6 0 21
CeGaT Center for Human Genetics Tuebingen 0 3 11 5 0 0 19
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 6 6 3 0 15
Genetic Services Laboratory, University of Chicago 0 0 6 3 1 0 10
PreventionGenetics, part of Exact Sciences 0 0 2 5 0 0 7
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 0 0 0 6
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 4 0 0 0 0 4
Baylor Genetics 0 0 2 0 0 0 2
Clinical Genetics, Academic Medical Center 0 0 0 1 1 0 2
Mendelics 0 0 1 1 0 0 2
Eurofins Ntd Llc (ga) 0 0 1 0 1 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
OMIM 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Revvity Omics, Revvity 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
CMT Laboratory, Bogazici University 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1

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