ClinVar Miner

Variants in gene STX1B

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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 not provided total
34 36 160 155 30 1 399

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Generalized epilepsy with febrile seizures plus, type 9 30 28 120 138 19 0 331
not provided 3 4 49 20 19 1 96
Inborn genetic diseases 1 3 18 9 3 0 34
STX1B-related disorder 0 0 4 4 1 0 9
not specified 0 0 3 2 3 0 8
Neurodevelopmental disorder 1 0 1 0 0 0 2
Epileptic encephalopathy 0 1 0 0 0 0 1
Generalized epilepsy 1 0 0 0 0 0 1
Generalized epilepsy with febrile seizures plus 1 0 0 0 0 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 21 18 112 140 18 0 309
GeneDx 2 4 34 10 17 0 67
Ambry Genetics 1 3 18 9 3 0 34
CeGaT Center for Human Genetics Tuebingen 0 0 13 7 0 0 20
Breakthrough Genomics, Breakthrough Genomics 0 0 1 2 8 0 11
PreventionGenetics, part of Exact Sciences 0 0 4 4 1 0 9
Athena Diagnostics 0 0 0 0 6 0 6
OMIM 5 0 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 2 2 0 0 0 5
Baylor Genetics 0 0 4 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 2 0 0 4
Fulgent Genetics, Fulgent Genetics 0 1 1 2 0 0 4
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 1 0 0 3 0 4
Genome-Nilou Lab 0 0 0 0 3 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 1 0 2
Revvity Omics, Revvity 0 0 2 0 0 0 2
Mendelics 0 1 1 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 1 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 1 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 0 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
Pediatrics, MediClubGeorgia 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1

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