ClinVar Miner

Variants studied for Multiple congenital anomalies-hypotonia-seizures syndrome 2

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
14 15 126 63 33 241

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PIGA 13 15 126 63 33 240
ACE2, AP1S2, ASB11, ASB9, BMX, CA5B, CLTRN, FANCB, INE2, MOSPD2, PIGA, PIR, VEGFD, ZRSR2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 6 4 113 62 33 218
OMIM 6 0 0 0 0 6
Illumina Laboratory Services, Illumina 1 1 3 0 0 5
Baylor Genetics 0 1 3 0 0 4
Mendelics 0 1 2 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 3
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 1 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 1 1 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 1
Shanghai First Maternity and Infant Hospital, Tongji University 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 1
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre, University of Oxford 0 0 0 1 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
3billion 0 1 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 1 0 0 1

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