Variants studied for mesenchymal cell neoplasm

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	association	other	not provided	total
70	27	228	236	88	28	1	12	676

Gene and significance breakdown #

Total genes and gene combinations: 27

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	other	not provided	total
PDGFRB	19	2	88	178	79	0	0	1	361
APC	28	4	68	11	3	0	0	1	115
FGFR1	4	8	43	26	2	0	0	2	81
NOTCH3	10	7	18	20	2	0	0	3	58
MED12	0	0	0	0	0	28	0	0	28
KRAS	1	0	0	0	0	0	0	5	6
PDGFB	1	0	1	1	2	0	0	0	4
CTNNB1, LOC126806658	1	2	0	0	0	0	0	0	2
MFN2	1	0	1	0	0	0	0	0	2
PCSK7	0	0	2	0	0	0	0	0	2
intergenic	0	0	1	0	0	0	0	0	1
ACTL6A	0	1	0	0	0	0	0	0	1
ADGRG2, MAP3K15, PDHA1, SH3KBP1	0	0	1	0	0	0	0	0	1
APC, LOC129994371	0	0	1	0	0	0	0	0	1
ARID1B	1	0	0	0	0	0	0	0	1
BCAN, BGLAP, CCT3, CRABP2, GLMP, GPATCH4, HAPLN2, HDGF, INSRR, IQGAP3, ISG20L2, LMNA, MEF2D, METTL25B, MIR9-1, MIR9-1HG, MRPL24, NAXE, NES, NTRK1, PAQR6, PMF1, PMF1-BGLAP, PRCC, RHBG, SEMA4A, SH2D2A, SLC25A44, SMG5, TMEM79, TSACC, TTC24, VHLL	1	0	0	0	0	0	0	0	1
CHEK2	1	0	0	0	0	0	0	0	1
DLX3	0	1	0	0	0	0	0	0	1
FH	0	1	0	0	0	0	0	0	1
GLI2	0	0	1	0	0	0	0	0	1
HMGA2	0	0	1	0	0	0	0	0	1
LOC130063807, NOTCH3	0	0	1	0	0	0	0	0	1
MET, RBPMS	0	0	0	0	0	0	1	0	1
PTCH1	0	0	1	0	0	0	0	0	1
SUFU	0	1	0	0	0	0	0	0	1
TP53	1	0	0	0	0	0	0	0	1
TSC1	1	0	0	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 41

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	other	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	3	0	86	177	79	0	0	0	345
Fulgent Genetics, Fulgent Genetics	21	11	119	55	7	0	0	0	213
Rajkovic Lab, University of Pittsburgh	0	0	0	0	0	28	0	0	28
Demoulin lab, University of Louvain	15	1	0	0	0	0	0	0	16
OMIM	13	0	0	0	0	0	0	0	13
Juno Genomics, Hangzhou Juno Genomics, Inc	6	5	1	0	0	0	0	0	12
Baylor Genetics	2	0	7	0	0	0	0	0	9
GeneReviews	0	0	0	0	0	0	0	7	7
Centre for Mendelian Genomics, University Medical Centre Ljubljana	2	1	4	0	0	0	0	0	7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	1	0	3	0	0	0	0	0	4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	1	2	0	0	0	0	0	0	3
Genetics and Molecular Pathology, SA Pathology	0	1	1	1	0	0	0	0	3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	3	0	0	0	0	0	0	0	3
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	0	1	1	1	0	0	0	3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	2	1	0	0	0	0	0	0	3
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust	2	0	0	0	0	0	0	0	2
Center for Applied Genomics, Children's Hospital of Philadelphia	0	0	0	0	0	0	0	2	2
University of Washington Center for Mendelian Genomics, University of Washington	0	2	0	0	0	0	0	0	2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	0	2	0	0	0	2
GenomeConnect - CureCADASIL	0	0	0	0	0	0	0	2	2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	2	0	0	0	0	0	2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	0	0	0	0	0	0	1	0	1
Mendelics	0	0	0	1	0	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	0	0	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	1	0	0	0	0	0	0	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	1	0	0	0	0	0	0	1
Dobyns Lab, Seattle Children's Research Institute	1	0	0	0	0	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	1	0	0	0	0	0	1
Genome Sciences Centre, British Columbia Cancer Agency	1	0	0	0	0	0	0	0	1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital	0	0	1	0	0	0	0	0	1
Hunter Genetics General Clinical Genetics Service, Hunter Genetics	1	0	0	0	0	0	0	0	1
SIB Swiss Institute of Bioinformatics	1	0	0	0	0	0	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	1	0	0	0	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	0	0	1	1
Center for Personalized Medicine, Children's Hospital Los Angeles	1	0	0	0	0	0	0	0	1
Clinical Bioinformatic Lab, Royan Institute	0	1	0	0	0	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	0	1	0	0	0	0	0	1
Genomics For Life	1	0	0	0	0	0	0	0	1
Michigan Center for Translational Pathology, University of Michigan	1	0	0	0	0	0	0	0	1
3billion	0	0	0	1	0	0	0	0	1
Coban-Akdemir Lab, University of Texas Health Science Center	0	0	1	0	0	0	0	0	1

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