ClinVar Miner

Variants in gene combination MBD5, ORC4

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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
12 4 0 4 0 20

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic likely benign total
See cases 6 4 1 11
not provided 4 0 0 4
not specified 0 0 3 3
Mental retardation, autosomal dominant 1 1 0 0 1
Schizophrenia 1 0 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic likely benign total
GeneDx 3 1 3 7
ISCA site 1 1 3 1 5
Quest Diagnostics Nichols Institute San Juan Capistrano 3 0 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 2 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 1 0 0 1
Department of Psychiatry,Nagoya University 1 0 0 1
Elsea Lab, Dept of Molecular and Human Genetics,Baylor College of Medicine 1 0 0 1

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