ClinVar Miner

Variants studied for hereditary neuropathy with liability to pressure palsies

Included ClinVar conditions (3):
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
14 2 33 12 12 7 74

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PMP22 5 2 32 11 12 6 62
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 4 0 0 0 0 0 4
ADORA2B, ARHGAP44, CDRT15, CDRT4, COX10, ELAC2, FBXW10B, HS3ST3A1, HS3ST3B1, MYOCD, NCOR1, PMP22, TBC1D26, TEKT3, TRIM16, TTC19, TVP23C, TVP23C-CDRT4, ZNF286A, ZSWIM7 0 0 0 0 0 1 1
CACNA1S 0 0 0 1 0 0 1
CDRT15, CDRT3, CDRT4, CDRT7, CDRT8, COX10, FBXW10B, HS3ST3B1, LOC101928475, LOC105943586, LOC105943587, LOC112529896, LOC125177427, LOC126862511, LOC126862512, LOC126862513, LOC130060304, LOC130060305, LOC130060306, LOC130060307, LOC132090456, MGC12916, MIR4731, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 1
CDRT15, CDRT4, COX10, FBXW10B, HS3ST3B1, PMP22, TEKT3, TRIM16, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 1
CDRT15, CDRT4, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 1
LMNA 0 0 1 0 0 0 1
MALL, NPHP1 1 0 0 0 0 0 1
MIR4731, PMP22 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 21 10 11 0 42
OMIM 7 0 0 0 0 0 7
Baylor Genetics 5 1 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 4 1 1 0 6
Inherited Neuropathy Consortium 0 0 6 0 0 0 6
GeneReviews 0 0 0 0 0 3 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 1 1 0 0 2
Mendelics 0 1 0 0 1 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1

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