ClinVar Miner

Variants studied for Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1

Coded as:
Minimum submission review status: Collection method:
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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
5 5 94 125 55 2 282

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PIK3R2 4 4 76 105 50 2 237
LOC130063979, PIK3R2 0 1 14 18 5 0 38
LOC130063980, PIK3R2 0 0 2 2 0 0 4
ARMC6, ARRDC2, BORCS8, CCDC124, CERS1, COMP, COPE, CRLF1, CRTC1, DDX49, ELL, FKBP8, GDF1, GDF15, HOMER3, IFI30, IL12RB1, INSL3, IQCN, ISYNA1, JAK3, JUND, KCNN1, KLHL26, KXD1, LRRC25, LSM4, MAST3, MEF2B, MPV17L2, NR2C2AP, PDE4C, PGPEP1, PIK3R2, RAB3A, REX1BD, RFXANK, RPL18A, SLC25A42, SLC5A5, SSBP4, SUGP2, TMEM161A, TMEM59L, UBA52, UPF1 0 0 1 0 0 0 1
CCND2 1 0 0 0 0 0 1
ZEB2 0 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 not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1 0 82 124 55 0 262
Revvity Omics, Revvity 1 0 5 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 4 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 3 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Fulgent Genetics, Fulgent Genetics 1 0 1 1 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 0 3
3billion 1 1 1 0 0 0 3
OMIM 2 0 0 0 0 0 2
Baylor Genetics 1 0 1 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
GeneReviews 0 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1

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