ClinVar Miner

Variants studied for SATB2 associated disorder

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
45 14 67 73 20 218

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SATB2 43 14 67 73 20 216
ANKAR, ANKRD44, ASNSD1, BOLL, C2orf66, C2orf88, CAVIN2, CCDC150, COQ10B, DNAH7, GLS, GTF3C3, HECW2, HIBCH, HSPD1, HSPE1, INPP1, MARS2, MFSD6, MOB4, MSTN, MYO1B, NAB1, NABP1, NEMP2, ORMDL1, OSGEPL1, PCGEM1, PGAP1, PLCL1, PMS1, RFTN2, SATB2, SF3B1, SLC39A10, SLC40A1, STAT1, STAT4, STK17B, TMEFF2 1 0 0 0 0 1
ANKRD44, BOLL, C2orf66, C2orf69, CCDC150, COQ10B, FTCDNL1, GTF3C3, HECW2, HSPD1, HSPE1, KCTD18, MAIP1, MARS2, MOB4, PGAP1, PLCL1, RFTN2, SATB2, SF3B1, SPATS2L, TYW5 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 12 3 62 73 20 170
GeneReviews 13 0 0 0 0 13
OMIM 6 0 0 0 0 6
Baylor Genetics 3 1 1 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 2 0 0 4
Mendelics 2 1 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 3 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 1 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 1 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 1
Dr Meenakshi Bhat Group,Centre for Human Genetics 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 1
Breda Genetics srl 1 0 0 0 0 1
Coyote Medical Laboratory (Beijing),Coyote 1 0 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 1
Medicover Genetics GmbH,Medicover Humangenetik Berlin-Lichtenberg MVZ 1 0 0 0 0 1
National Institute of Neuroscience,National Center of Neurology and Psychiatry 1 0 0 0 0 1

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