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
19 2 113 13 2 1 148

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
MBD5 16 2 113 13 2 1 145
​intergenic 1 0 0 0 0 0 1
EPC2, KIF5C, MBD5, ORC4 1 0 0 0 0 0 1
MBD5, ORC4 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 9 1 101 11 2 0 124
Fulgent Genetics,Fulgent Genetics 0 0 7 0 0 0 7
Mendelics 0 0 3 2 0 0 5
GeneReviews 4 0 0 0 0 0 4
OMIM 3 0 0 0 0 0 3
Elsea Lab, Dept of Molecular and Human Genetics,Baylor College of Medicine 3 0 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 3 0 0 0 3
Baylor Genetics 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1

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