ClinVar Miner

Variants in gene combination COL4A1, COL4A2

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 total
0 0 0 3 10 13

Condition and significance breakdown #

Total conditions: 5
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Condition likely benign benign total
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 3 7 10
Brain small vessel disease with hemorrhage 3 7 10
Porencephalic cyst 3 7 10
not provided 0 3 3
not specified 0 1 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter likely benign benign total
Illumina Clinical Services Laboratory,Illumina 3 7 10
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 3 3
Athena Diagnostics Inc 0 1 1
GeneDx 0 1 1
PreventionGenetics,PreventionGenetics 0 1 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 1

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