ClinVar Miner

Variants studied for Pitt-Hopkins-like syndrome 2

Included ClinVar conditions (2):
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
9 1 100 48 20 175

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 total
NRXN1 7 1 97 48 20 170
LOC110121071, MIR8485, NRXN1 2 0 0 0 0 2
LOC110121071, NRXN1 0 0 2 0 0 2
LOC114827832, NRXN1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 4 1 81 46 20 152
Fulgent Genetics 0 0 16 0 0 16
OMIM 4 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 4
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
Illumina Clinical Services Laboratory,Illumina 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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