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 not provided total
58 23 980 627 59 2 1704

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NRXN1 55 23 972 627 58 2 1692
LOC110121071, LOC129388861, NRXN1 1 0 2 0 0 0 3
FSHR, NRXN1 0 0 2 0 0 0 2
LOC110121071, LOC129388861, MIR8485, NRXN1 2 0 0 0 0 0 2
LOC114827832, NRXN1 0 0 1 0 1 0 2
FBXO11, FOXN2, FSHR, GTF2A1L, KCNK12, LHCGR, MSH2, MSH2-OT1, MSH6, NRXN1, PPP1R21, STON1, STON1-GTF2A1L 0 0 1 0 0 0 1
FBXO11, FOXN2, FSHR, GTF2A1L, LHCGR, MSH6, NRXN1, PPP1R21, STON1, STON1-GTF2A1L 0 0 1 0 0 0 1
FSHR, LHCGR, NRXN1, STON1-GTF2A1L 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 47 18 838 610 41 0 1554
Illumina Laboratory Services, Illumina 0 0 135 15 27 0 177
Fulgent Genetics, Fulgent Genetics 0 0 22 5 0 0 27
Revvity Omics, Revvity 1 3 13 0 0 0 17
Baylor Genetics 0 0 9 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 1 0 0 8
OMIM 4 0 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 1 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 2 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 2 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
New York Genome Center 0 1 1 0 0 0 2
Mendelics 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Breda Genetics srl 0 1 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

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