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
10 4 0 4 0 18

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 specified 0 0 3 3
not provided 2 0 0 2
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
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 2 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 1 0 0 1

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