ClinVar Miner

Variants in gene combination ACVR2A, MBD5, ORC4

See also:
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 not provided total
2 2 0 0 5 1 9

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic benign not provided total
not provided 0 0 5 0 5
See cases 1 2 0 0 3
Chromosome 2q23.1 deletion syndrome 0 0 0 1 1
MBD5 associated neurodevelopmental disorder 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic benign not provided total
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 5 0 5
ISCA site 1 1 1 0 0 2
Elsea Laboratory,Baylor College of Medicine 1 0 0 0 1
ISCA site 4 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 1 1

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