ClinVar Miner

Variants studied for Pitt-Hopkins-like syndrome

Included ClinVar conditions (5):
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
34 3 521 57 41 653

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CNTNAP2 18 1 260 34 31 343
NRXN1 10 2 257 23 9 299
CNTNAP2, MIR548F4 3 0 0 0 0 3
LOC110121071, NRXN1 0 0 3 0 0 3
LOC110121071, MIR8485, NRXN1 2 0 0 0 0 2
LOC114827832, NRXN1 0 0 1 0 1 2
CNTNAP2, TPK1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 17 2 281 26 2 328
Illumina Clinical Services Laboratory,Illumina 0 0 222 29 34 285
Fulgent Genetics,Fulgent Genetics 0 0 37 0 0 37
OMIM 14 0 0 0 0 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 9 0 0 9
Athena Diagnostics Inc 0 0 0 0 7 7
Mendelics 1 0 0 0 3 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 2 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 2 0 0 2
Undiagnosed Diseases Network,NIH 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1

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