Variants in gene FGF12 - ClinVar Miner

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
2	6	102	102	62	2	263

Condition and significance breakdown #

Total conditions: 9

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
not provided	2	4	85	100	62	0	246
Developmental and epileptic encephalopathy, 47	2	3	11	1	2	0	17
Inborn genetic diseases	0	0	10	1	0	0	11
FGF12-related disorder	1	0	4	1	1	0	7
not specified	0	0	3	0	2	0	5
Early onset epileptic encephalopathy	0	0	0	0	0	1	1
Gestational diabetes mellitus uncontrolled	0	0	0	0	0	1	1
See cases	0	0	1	0	0	0	1
Seizure	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 38

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	2	3	67	85	28	0	185
GeneDx	1	1	8	11	37	0	58
Breakthrough Genomics, Breakthrough Genomics	0	0	0	2	16	0	18
Ambry Genetics	0	0	10	1	0	0	11
CeGaT Center for Human Genetics Tuebingen	0	1	2	5	1	0	9
PreventionGenetics, part of Exact Sciences	1	0	4	1	1	0	7
Quest Diagnostics Nichols Institute San Juan Capistrano	0	0	7	0	0	0	7
New York Genome Center	0	0	4	0	0	0	4
Baylor Genetics	2	0	1	0	0	0	3
Revvity Omics, Revvity	0	0	3	0	0	0	3
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories	0	0	3	0	0	0	3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	1	0	0	2	0	0	3
Neuberg Centre For Genomic Medicine, NCGM	0	1	2	0	0	0	3
Genetic Services Laboratory, University of Chicago	0	0	0	0	2	0	2
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	1	1	0	2
Fulgent Genetics, Fulgent Genetics	0	0	1	1	0	0	2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	1	0	0	0	0	2
Génétique des Maladies du Développement, Hospices Civils de Lyon	1	1	0	0	0	0	2
Clinical Genetics Laboratory, Skane University Hospital Lund	1	0	1	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	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
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	0	1	0	0	0	0	1
Bionano Laboratories	0	0	1	0	0	0	1
ISCA site 1	0	0	1	0	0	0	1
Institute of Molecular and Cell Biology, University of Tartu	0	0	0	0	0	1	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	1	0	0	0	0	0	1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes	1	0	0	0	0	0	1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	0	1	0	0	0	1
Undiagnosed Diseases Network, NIH	0	1	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	0	0	1
Genome Diagnostics Laboratory, Amsterdam University Medical Center	1	0	0	0	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	1	0	0	0	0	0	1
3billion	1	0	0	0	0	0	1
Genomics England Pilot Project, Genomics England	0	1	0	0	0	0	1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital	1	0	0	0	0	0	1

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