ClinVar Miner

Variants studied for Multiple congenital anomalies-hypotonia-seizures syndrome 1

Coded as:
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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
121 61 375 496 49 1088

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PIGN 117 58 366 478 47 1053
LOC132090498, PIGN 0 1 0 11 2 14
LOC132090497, PIGN 1 1 5 7 0 13
PIGN, RELCH, TNFRSF11A 1 0 2 0 0 3
BCL2, HMSD, KDSR, PHLPP1, PIGN, RELCH, SERPINB10, SERPINB11, SERPINB12, SERPINB13, SERPINB2, SERPINB3, SERPINB4, SERPINB5, SERPINB7, SERPINB8, TNFRSF11A, VPS4B, ZCCHC2 1 0 1 0 0 2
LOC130062624, LOC130062625, LOC130062626, LOC130062627, LOC130062628, LOC130062629, LOC130062630, LOC130062631, LOC132090496, LOC132090497, LOC132090498, LOC132090499, LOC132090500, LOC132090501, LOC132090899, PIGN, RELCH, TNFRSF11A 0 0 1 0 0 1
LOC132090496, LOC132090497, LOC132090498, LOC132090499, LOC132090899, PIGN 1 0 0 0 0 1
LOC132090496, PIGN 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 113 46 356 496 46 1057
Baylor Genetics 3 5 8 0 0 16
Revvity Omics, Revvity 3 2 8 0 0 13
OMIM 11 0 0 0 0 11
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 3 0 0 0 7
Genome-Nilou Lab 0 0 0 0 6 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 0 0 0 5
Mendelics 3 1 0 0 1 5
Centogene AG - the Rare Disease Company 1 0 3 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 4 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 3 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 1 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 3
Johns Hopkins Genomics, Johns Hopkins University 1 0 2 0 0 3
Undiagnosed Diseases Network, NIH 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 2
Clinical genetics, CHU Grenoble-Alpes 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 1 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 0 1 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 1
3billion 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1
Prenatal Diagnosis Center, Peking University People's Hospital 0 1 0 0 0 1

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