ClinVar Miner

Variants studied for Congenital sensory neuropathy with selective loss of small myelinated fibers

Coded as:
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 total
3 1 93 50 8 146

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NGF 3 0 93 50 8 145
SCN11A 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 0 84 45 8 138
Genome-Nilou Lab 0 0 22 7 2 31
Illumina Laboratory Services, Illumina 0 0 14 1 5 20
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 2 2 4
Baylor Genetics 0 0 3 0 0 3
OMIM 2 0 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 2
Revvity Omics, Revvity 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1

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