ClinVar Miner

Variants studied for neuropathy, hereditary sensory, type 2C

Included ClinVar conditions (4):
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
63 30 808 1316 107 6 2307

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KIF1A 61 30 777 1266 101 5 2218
KIF1A, LOC126806583 1 0 28 50 6 1 86
AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ATG4B, BOK, CAPN10, COL6A3, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, KIF1A, KLHL30, LRRFIP1, MAB21L4, MIR149, MLPH, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRLH, PRR21, RAB17, RAMP1, RBM44, RNPEPL1, SCLY, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2, UBE2F 1 0 1 0 0 0 2
AGXT, KIF1A 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 14
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 61 29 786 1316 107 0 2298
Fulgent Genetics, Fulgent Genetics 0 1 20 3 0 0 24
Baylor Genetics 2 0 5 0 0 0 7
GenomeConnect - Brain Gene Registry 0 0 0 0 0 4 4
OMIM 2 0 0 0 0 0 2
MGZ Medical Genetics Center 1 0 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
New York Genome Center 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.