ClinVar Miner

Variants in gene LIG4

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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 protective total
18 13 188 42 27 2 272

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective total
Lig4 syndrome 15 6 178 34 27 0 251
Severe combined immunodeficiency due to DCLRE1C deficiency 0 0 52 8 24 0 84
not provided 9 6 5 7 0 0 27
not specified 0 0 9 6 5 0 19
Inborn genetic diseases 2 0 2 0 0 0 4
Lig4 syndrome; Multiple myeloma 1 0 2 0 0 0 3
LIG4-Related Disorders 1 0 1 0 0 0 2
Multiple myeloma, resistance to 0 0 0 0 0 2 2
Multiple myeloma 0 0 1 0 0 0 1
Papillary thyroid carcinoma 0 1 0 0 0 0 1
none provided 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective total
Invitae 10 1 133 28 13 0 185
Illumina Clinical Services Laboratory,Illumina 1 0 53 8 24 0 86
GeneDx 3 4 2 3 4 0 16
Genetic Services Laboratory, University of Chicago 0 0 7 4 1 0 12
OMIM 5 0 0 0 0 2 7
CeGaT Praxis fuer Humangenetik Tuebingen 5 0 2 0 0 0 7
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 2 1 1 0 0 0 4
Ambry Genetics 2 0 2 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 3 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 2 0 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 1 0 0 0 3
Fulgent Genetics,Fulgent Genetics 1 0 2 0 0 0 3
Blueprint Genetics 1 0 1 0 0 0 2
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 0 2 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 2 0 0 0 0 2
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles 1 1 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 0 1
PreventionGenetics, PreventionGenetics 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 0 0 1
Sidra Medical and Research Center 0 1 0 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 1 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 0 0 1 0 0 1

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