ClinVar Miner

Variants in gene FERMT3

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Minimum submission review status: Collection method:
Minimum conflict level:
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
16 7 230 274 42 1 547

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Leukocyte adhesion deficiency 3 16 7 197 264 36 1 512
Inborn genetic diseases 0 0 57 1 0 0 58
not provided 0 0 15 16 21 0 49
FERMT3-related disorder 0 0 3 12 2 0 17
not specified 0 0 3 7 7 0 17
Leukocyte adhesion deficiency 1 0 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 7 6 192 261 36 0 502
Ambry Genetics 0 0 57 1 0 0 58
Breakthrough Genomics, Breakthrough Genomics 0 0 4 6 18 0 28
PreventionGenetics, part of Exact Sciences 0 0 3 12 2 0 17
GeneDx 0 0 3 0 13 0 16
Eurofins Ntd Llc (ga) 0 0 6 2 3 0 11
CeGaT Center for Human Genetics Tuebingen 0 0 0 7 2 0 9
OMIM 8 0 0 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 5 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 4 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 4 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 3 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 1 3 0 0 4
Baylor Genetics 0 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Koker Lab, University of Erciyes Medical School 1 0 0 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1

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