ClinVar Miner

Variants studied for Neurodevelopmental disorder with speech impairment and dysmorphic facies

Coded as:
Minimum submission review status: Collection method:
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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
8 12 21 0 1 41

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
SETD1A 8 12 21 1 41

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance benign total
Neuberg Centre For Genomic Medicine, NCGM 0 0 8 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 4 0 4
OMIM 3 0 0 0 3
Baylor Genetics 0 0 2 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 2
Illumina Laboratory Services, Illumina 1 1 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 2
3billion, Medical Genetics 0 2 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 1
Human Developmental Genetics Laboratory, Medical College of Wisconsin 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 0 0 1
New York Genome Center 0 0 1 0 1
Genome-Nilou Lab 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 1

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