ClinVar Miner

Variants studied for Pitt-Hopkins-like syndrome 2

Coded as:
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Gene type:

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
64 31 1113 764 61 1 1994

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 not provided total
NRXN1 61 30 1105 764 60 1 1982
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
NRXN1, NRXN1-DT 0 1 0 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 53 21 979 750 43 0 1846
Illumina Laboratory Services, Illumina 0 0 134 15 27 0 176
Revvity Omics, Revvity 0 4 13 0 0 0 17
Baylor Genetics 0 0 9 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 1 0 0 4
OMIM 4 0 0 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 0 0 0 0 0 4
New York Genome Center 0 1 2 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 2 0 0 2
MVZ Martinsried, Medicover Genetics 0 0 2 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Breda Genetics srl, Breda Genetics srl 0 1 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 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
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1

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