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
27 1 432 129 80 633

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CNTNAP2 13 0 216 72 53 339
NRXN1 7 1 213 57 27 284
CNTNAP2, MIR548F4 2 0 0 0 0 2
LOC110121071, MIR8485, NRXN1 2 0 0 0 0 2
LOC110121071, NRXN1 0 0 2 0 0 2
CNTNAP2, LOC101928700 1 0 0 0 0 1
CNTNAP2, LOC101928700, MIR548F4 1 0 0 0 0 1
CNTNAP2, TPK1 1 0 0 0 0 1
LOC114827832, NRXN1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 12 1 190 98 46 347
Illumina Clinical Services Laboratory,Illumina 0 0 222 29 34 285
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
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 Miraca Genetics Laboratories, 0 0 1 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 1

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