ClinVar Miner

Variants studied for fetal akinesia-cerebral and retinal hemorrhage syndrome

Included ClinVar conditions (3):
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 0 3 1 2 1 9

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance likely benign benign not provided total
DNM2 2 3 1 2 1 9

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 1 2 1 1 0 5
OMIM 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 1 1

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