ClinVar Miner

Variants studied for syndromic X-linked intellectual disability 14

Included ClinVar conditions (1):
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 total
12 6 53 66 35 169

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
UPF3B 11 6 52 66 35 167
AKAP14, ATP1B4, C1GALT1C1, CUL4B, DOCK11, IL13RA1, KIAA1210, LAMP2, LONRF3, MCTS1, NDUFA1, NKAP, NKRF, PGRMC1, RHOXF1, RHOXF2, RHOXF2B, RNF113A, RPL39, SEPTIN6, SLC25A43, SLC25A5, SOWAHD, STEEP1, TMEM255A, UBE2A, UPF3B, ZBTB33, ZCCHC12 1 0 0 0 0 1
AKAP14, ATP1B4, C1GALT1C1, CUL4B, LAMP2, MCTS1, NDUFA1, NKAP, NKRF, RHOXF1, RHOXF2, RHOXF2B, RNF113A, RPL39, SEPTIN6, SOWAHD, TMEM255A, UBE2A, UPF3B, ZBTB33 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 3 0 47 65 34 149
Revvity Omics, Revvity 2 2 2 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 2 0 0 5
OMIM 4 0 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Mendelics 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 1 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 1

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