ClinVar Miner

Variants in gene FTCD

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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
15 35 164 130 38 1 352

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Glutamate formiminotransferase deficiency 15 33 92 102 37 1 269
Inborn genetic diseases 3 0 78 8 0 0 89
not provided 4 3 34 16 16 0 65
FTCD-related disorder 1 2 0 11 3 0 17
not specified 0 0 2 1 7 0 10
Intellectual disability 0 0 2 6 0 0 8
FTCD-AS1-related disorder 0 0 0 4 1 0 5
Myoepithelial tumor 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 12 3 87 106 36 0 244
Ambry Genetics 3 0 78 8 0 0 89
Fulgent Genetics, Fulgent Genetics 2 29 4 0 0 0 35
GeneDx 2 2 18 0 2 0 24
PreventionGenetics, part of Exact Sciences 1 2 0 15 4 0 22
Breakthrough Genomics, Breakthrough Genomics 0 0 2 3 16 0 21
Eurofins Ntd Llc (ga) 3 0 9 0 7 0 19
CeGaT Center for Human Genetics Tuebingen 0 1 6 9 0 0 16
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 2 6 0 0 8
OMIM 6 0 0 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 2 0 0 0 5
Illumina Laboratory Services, Illumina 0 0 3 1 0 0 4
Baylor Genetics 1 0 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 1 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Molecular Genetics, Royal Melbourne Hospital 1 0 1 0 0 0 2
Revvity Omics, Revvity 1 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 1 0 0 0 0 0 1

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