ClinVar Miner

Variants studied for Brown-Vialetto-van Laere syndrome 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
30 8 196 165 29 24 426

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC52A3 28 8 195 165 28 24 422
SLC52A2 1 0 1 0 0 0 2
CSNK2A1, RBCK1, SCRT2, SLC52A3, SRXN1, TBC1D20, TCF15 1 0 0 0 0 0 1
LINC01409 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 19 1 188 163 23 0 394
GeneReviews 3 0 0 0 0 23 26
Fulgent Genetics, Fulgent Genetics 0 0 3 2 4 0 9
OMIM 9 0 0 0 0 0 9
Genome-Nilou Lab 0 0 0 0 8 0 8
MGZ Medical Genetics Center 0 1 2 0 0 0 3
Department of Genetics, Sultan Qaboos University Hospital 1 0 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 1 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1

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