ClinVar Miner

Variants studied for Pitt-Hopkins-like syndrome 2

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
17 5 371 98 43 510

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 15 5 367 98 42 503
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

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 11 5 241 85 24 366
Illumina Clinical Services Laboratory,Illumina 0 0 135 15 27 177
OMIM 4 0 0 0 0 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
Mendelics 0 0 0 0 1 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 1

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