ClinVar Miner

Variants in gene combination CPLANE1, NIPBL

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 0 0 0 10 13

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic benign total
not provided 0 10 10
Chromosome 5p13 duplication syndrome 1 0 1
See cases 1 0 1
not specified 1 0 1

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic benign total
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 10 10
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 1
ISCA site 1 1 0 1
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 1 0 1

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