ClinVar Miner

Variants in gene PHACTR1

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Minimum submission review status: Collection method:
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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 4 56 23 9 91

Condition and significance breakdown #

Total conditions: 8
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Condition likely pathogenic uncertain significance likely benign benign total
not provided 0 15 14 5 34
Developmental and epileptic encephalopathy, 70 3 18 1 0 22
not specified 0 19 2 0 21
PHACTR1-related disorder 0 5 9 4 18
Neurodevelopmental abnormality 0 0 1 0 1
PHACTR1-related neurodevelopmental condition 1 0 0 0 1
Schizophrenia 0 1 0 0 1
See cases 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter likely pathogenic uncertain significance likely benign benign total
CeGaT Center for Human Genetics Tuebingen 0 5 14 4 23
Ambry Genetics 0 18 0 0 18
PreventionGenetics, part of Exact Sciences 0 5 9 4 18
GeneDx 0 9 0 1 10
New York Genome Center 0 7 0 0 7
Revvity Omics, Revvity 0 6 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 2 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 3 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 0 2
Bionano Laboratories 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 1
ISCA site 1 0 1 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 1 0 0 1

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