ClinVar Miner

Variants studied for neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities

Included ClinVar conditions (1):
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
16 13 7 1 0 37

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
ZMYM2 16 13 6 1 36
TET3 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
OMIM 6 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 3
3billion 0 3 0 0 3
MGZ Medical Genetics Center 1 0 1 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 2 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 1 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 2
Revvity Omics, Revvity 0 0 1 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 1
New York Genome Center 0 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 1
EVOGEN 0 1 0 0 1

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