ClinVar Miner

Variants studied for brown-Vialetto-van Laere syndrome 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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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
31 9 218 167 15 12 432

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
SLC52A2 30 9 216 167 15 12 429
ADCK5, BOP1, CCDC166, CPSF1, CYC1, DGAT1, EEF1D, EPPK1, EXOSC4, FAM83H, FBXL6, FOXH1, GFUS, GLI4, GPAA1, GPIHBP1, GRINA, GSDMD, HGH1, HSF1, KIFC2, MAF1, MAFA, MAPK15, MIR1234, MIR661, MROH1, MROH6, NAPRT, NRBP2, OPLAH, PARP10, PLEC, PUF60, PYCR3, RHPN1, SCRIB, SCRT1, SCX, SHARPIN, SLC39A4, SLC52A2, SPATC1, TIGD5, TMEM249, TONSL, TOP1MT, VPS28, ZC3H3, ZFP41, ZFTRAF1, ZNF623, ZNF696, ZNF707 1 0 0 0 0 0 1
ADCK5, BOP1, CPSF1, CYC1, DGAT1, EXOSC4, FBXL6, FOXH1, GPAA1, GRINA, HGH1, HSF1, KIFC2, MAF1, MIR1234, MIR661, MROH1, OPLAH, PARP10, PLEC, SCRT1, SCX, SHARPIN, SLC39A4, SLC52A2, SPATC1, TMEM249, TONSL, VPS28, ZFTRAF1 0 0 1 0 0 0 1
ADCK5, BOP1, CPSF1, CYC1, DGAT1, EXOSC4, FBXL6, FOXH1, GPAA1, GRINA, HGH1, HSF1, KIFC2, MAF1, MIR1234, MROH1, OPLAH, PARP10, PLEC, SCRT1, SCX, SHARPIN, SLC39A4, SLC52A2, SPATC1, TMEM249, TONSL, VPS28, ZFTRAF1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 23 3 209 166 14 0 415
GeneReviews 0 0 0 0 0 11 11
OMIM 7 0 0 0 0 0 7
Baylor Genetics 1 1 4 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 5 0 0 0 5
Revvity Omics, Revvity 1 0 3 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Institute of Human Genetics, Cologne University 1 1 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 0 0 0 2
Mendelics 1 0 0 1 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 0 1
Elsea Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 0 1 0 0 0 1

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