ClinVar Miner

Variants studied for neuronopathy, distal hereditary motor, type 5B

Included ClinVar conditions (2):
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
2 2 7 0 4 15

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
REEP1 2 2 6 4 14
BICD2 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance benign total
Baylor Genetics 0 0 4 0 4
Genome-Nilou Lab 0 0 0 4 4
OMIM 1 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 1
Laboratory of Applied Genomics, Kongju National University 0 1 0 0 1
Breda Genetics srl 0 0 1 0 1
Suma Genomics 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 1 0 1

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