ClinVar Miner

Variants studied for Pallister-Hall syndrome

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
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 total
75 17 192 327 179 729

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 total
GLI3 67 14 185 325 175 705
SMO 6 2 5 2 4 19
SCLT1 1 1 0 0 0 2
CDK13, GLI3, INHBA, MPLKIP, RALA, SUGCT 1 0 0 0 0 1
GLI3, LOC110121152 0 0 1 0 0 1
LOC129999303, SMO 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 57 10 107 280 117 571
Illumina Laboratory Services, Illumina 0 0 45 31 94 170
Fulgent Genetics, Fulgent Genetics 1 0 38 41 7 87
OMIM 11 0 0 0 0 11
Genome-Nilou Lab 0 0 0 0 6 6
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 4 0 0 4
3billion 2 1 1 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Mendelics 1 0 0 0 0 1
GeneReviews 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 1

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