ClinVar Miner

Variants in gene ARHGEF15

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
0 1 401 223 37 2 644

Condition and significance breakdown #

Total conditions: 6
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Condition likely pathogenic uncertain significance likely benign benign not provided total
Developmental and epileptic encephalopathy 1 353 209 37 0 600
not specified 0 86 4 0 0 90
not provided 0 9 13 19 2 42
ARHGEF15-related disorder 0 1 11 3 0 15
Prostate cancer 0 1 0 0 0 1
See cases 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 353 211 37 0 601
Ambry Genetics 0 85 2 0 0 87
Breakthrough Genomics, Breakthrough Genomics 0 4 7 19 0 30
PreventionGenetics, part of Exact Sciences 0 1 11 3 0 15
GeneDx 0 0 1 3 0 4
Genetic Services Laboratory, University of Chicago 0 1 2 0 0 3
CeGaT Center for Human Genetics Tuebingen 0 0 3 0 0 3
GenomeConnect, ClinGen 0 0 0 0 2 2
New York Genome Center 0 2 0 0 0 2
OMIM 0 1 0 0 0 1
Revvity Omics, Revvity 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 1 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 1

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