ClinVar Miner

Variants in gene FERMT1

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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
36 8 231 142 120 17 524

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 18 4 142 127 101 2 390
Kindler syndrome 25 3 96 13 44 15 190
Inborn genetic diseases 0 0 19 1 0 0 20
not specified 0 0 0 0 18 0 18
FERMT1-related condition 1 0 1 12 1 0 15
Abnormality of the skin 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 16 3 140 125 39 0 323
Illumina Laboratory Services, Illumina 1 0 95 13 43 0 152
GeneDx 2 1 4 1 77 0 85
PreventionGenetics, part of Exact Sciences 1 0 1 12 7 0 21
Ambry Genetics 0 0 19 1 0 0 20
GeneReviews 4 0 0 0 0 15 19
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 18 0 18
CeGaT Center for Human Genetics Tuebingen 0 0 1 4 2 0 7
Biomedical Innovation Departament, CIEMAT 7 0 0 0 0 0 7
OMIM 6 0 0 0 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 0 0 0 0 2
3billion 2 0 0 0 0 0 2
Revvity Omics, Revvity 0 1 0 0 0 0 1
Institute of Human Genetics, University of Ulm 0 1 0 0 0 0 1
Eurofins Ntd Llc (ga) 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Department of Medical Genetics, College of Basic Medicine, Army Medical University 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1

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