ClinVar Miner

Variants studied for chromosome 15q13.3 microdeletion syndrome

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 not provided total
12 0 1 0 0 1 14

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic uncertain significance not provided total
CHRNA7, FAN1, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 4 0 1 5
ARHGAP11B, CHRNA7, FAN1, GOLGA8H, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 4 0 0 4
ARHGAP11A, CHRNA7, FAN1, GOLGA8N, GOLGA8O, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 1 0 0 1
ARHGAP11B, CHRNA7, FAN1, GOLGA8H, GOLGA8N, GOLGA8O, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 1 0 0 1
ARHGAP11B, CHRNA7, FAN1, KLF13, LINC02352, LINC03034, LOC106736476, LOC106736477, LOC106736480, LOC106783506, LOC110121498, LOC112272582, LOC121847941, LOC125078053, LOC126862088, LOC126862089, LOC127829159, LOC128899998, LOC128899999, LOC129390679, LOC129390680, LOC130056726, LOC130056727, MIR211, MTMR10, OTUD7A, TRPM1 1 0 0 1
ARHGAP11B, CHRNA7, FAN1, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 1 0 0 1
CHRNA7 0 1 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic uncertain significance not provided total
Institute of Human Genetics, University of Leipzig Medical Center 5 0 0 5
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 3 0 0 3
GeneReviews 1 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 1
GenomeConnect, ClinGen 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 1
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 1 0 0 1

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