ClinVar Miner

Variants studied for Intellectual disability, autosomal dominant 47

Coded as:
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
8 17 30 3 1 2 57

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
STAG1 8 14 30 3 1 2 54
AMOTL2, ANAPC13, BFSP2, C3orf36, CDV3, CEP63, EPHB1, KY, MSL2, PCCB, PPP2R3A, RAB6B, RYK, SLCO2A1, SRPRB, STAG1, TF, TMEM108, TOPBP1 0 1 0 0 0 0 1
IL20RB, LOC112903838, LOC123038189, LOC123038190, LOC126806819, LOC126806820, LOC129389139, LOC129937631, LOC129937632, LOC129937633, LOC129937634, LOC129937635, LOC129937636, LOC129937637, LOC129937638, LOC129937639, LOC129937640, LOC129937641, LOC129937642, MSL2, NCK1, NCK1-DT, PCCB, PPP2R3A, SLC35G2, STAG1, STAG1-DT 0 1 0 0 0 0 1
LOC112903838, LOC123038189, LOC123038190, LOC126806819, LOC126806820, LOC129937631, LOC129937632, LOC129937633, LOC129937634, MSL2, PCCB, PPP2R3A, STAG1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 0 7 9 0 0 0 16
Revvity Omics, Revvity 0 1 8 0 0 0 9
New York Genome Center 0 0 7 0 0 0 7
OMIM 6 0 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 2 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 2 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
3billion 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 0 1

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