ClinVar Miner

Variants studied for Generalized epilepsy with febrile seizures plus, type 9

Coded as:
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
34 27 122 138 19 336

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
STX1B 30 27 120 138 19 330
HSD3B7, STX1B 1 0 1 0 0 2
LOC130058887, STX1B 2 0 0 0 0 2
BCL7C, CFAP119, CTF1, FBXL19, HSD3B7, ORAI3, PHKG2, RNF40, SETD1A, SRCAP, STX1B, ZNF629 0 0 1 0 0 1
LOC130058885, LOC130058886, LOC130058887, STX1B, STX4, ZNF668 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 24 18 113 137 18 310
OMIM 5 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 2 2 0 0 5
Baylor Genetics 0 0 4 0 0 4
Fulgent Genetics, Fulgent Genetics 0 1 1 2 0 4
Genome-Nilou Lab 0 0 0 0 3 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 1 2
Revvity Omics, Revvity 0 0 2 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 1
Mendelics 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 1
Pediatrics, MediClubGeorgia 0 1 0 0 0 1
3billion, Medical Genetics 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 1

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