ClinVar Miner

Variants in gene FAT4

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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 total
11 4 131 148 99 351

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 0 3 92 104 72 254
not specified 0 0 15 54 45 110
Hennekam lymphangiectasia-lymphedema syndrome 2 5 0 14 0 0 19
Van Maldergem syndrome 2 7 0 10 0 2 19
none provided 0 0 4 5 6 15
Inborn genetic diseases 0 0 4 0 0 4
Ascites; Pleural effusion; Wide intermamillary distance; Right ventricular hypertrophy; Low-set nipples; Chylothorax; Hydrops fetalis 0 0 1 1 0 2
Hennekam lymphangiectasia-lymphedema syndrome 1 0 0 2 0 0 2
Anophthalmia-microphthalmia syndrome 0 0 0 1 0 1
Irido-corneo-trabecular dysgenesis; Anophthalmia-microphthalmia syndrome 0 0 0 1 0 1
Microcephaly 0 0 1 0 0 1
Van Maldergem syndrome 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 35 92 52 179
GeneDx 0 3 42 61 65 171
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 18 2 0 20
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 5 6 6 17
Baylor Genetics 0 0 13 0 0 13
OMIM 10 0 0 0 0 10
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 1 7 9
Genetic Services Laboratory, University of Chicago 0 0 4 4 0 8
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 6 1 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 4 0 5
Ambry Genetics 0 0 4 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 4
Mendelics 0 0 1 0 2 3
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 2
Integrated Genetics/Laboratory Corporation of America 0 0 2 0 0 2
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 2 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 2
Undiagnosed Diseases Network,NIH 0 0 2 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 1 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 2 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 2 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 1 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 1

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