ClinVar Miner

Variants studied for 2q23.1 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
18 0 92 30 15 1 153

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic uncertain significance likely benign benign not provided total
MBD5 15 92 30 15 1 150
​intergenic 1 0 0 0 0 1
EPC2, KIF5C, MBD5, ORC4 1 0 0 0 0 1
MBD5, ORC4 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic uncertain significance likely benign benign not provided total
Invitae 8 83 30 15 0 136
Fulgent Genetics 0 7 0 0 0 7
GeneReviews 4 0 0 0 0 4
OMIM 3 0 0 0 0 3
Elsea Lab, Dept of Molecular and Human Genetics,Baylor College of Medicine 3 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 3 0 0 0 3
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 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
GenomeConnect, ClinGen 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 1

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