ClinVar Miner

Variants studied for Shashi-Pena syndrome

Included ClinVar conditions (2):
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
9 3 30 2 0 1 45

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
ASXL2 9 3 30 2 0 44
ADCY3, ASXL2, CENPO, DNAJC27, DNMT3A, DTNB, EFR3B, GAREM2, HADHA, HADHB, KIF3C, NCOA1, POMC, PTRHD1, RAB10 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Revvity Omics, Revvity 0 0 10 1 0 11
OMIM 6 0 0 0 0 6
Baylor Genetics 0 0 5 0 0 5
Illumina Laboratory Services, Illumina 0 0 4 0 0 4
New York Genome Center 0 0 4 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 1
Mendelics 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1

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