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 |
not provided |
total |
95
|
49
|
953
|
1151
|
303
|
23
|
2348
|
Gene and significance breakdown #
Total genes and gene combinations: 11
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
CACNA1S
|
73
|
45
|
730
|
1056
|
206
|
9
|
1910
|
GH-LCR, SCN4A
|
13
|
3
|
134
|
62
|
68
|
6
|
278
|
SCN4A
|
6
|
1
|
77
|
33
|
29
|
8
|
145
|
CACNA1S, LOC101929305
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
MT-TF
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
SLC12A3
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
ADIPOR1, ADORA1, ARL8A, ASCL5, ATP2B4, AVPR1B, BTG2, C1orf116, C4BPA, C4BPB, CACNA1S, CAMSAP2, CD34, CD46, CD55, CDK18, CHI3L1, CHIT1, CNTN2, CR1, CR1L, CR2, CSRP1, CTSE, CYB5R1, DDX59, DSTYK, DYRK3, EIF2D, ELF3, ELK4, ETNK2, FAM72A, FCAMR, FCMR, FMOD, GOLT1A, GPR25, GPR37L1, IGFN1, IKBKE, IL10, IL19, IL20, IL24, INAVA, IPO9, KDM5B, KIF14, KIF21B, KISS1, KLHDC8A, KLHL12, LAD1, LAX1, LEMD1, LGR6, LMOD1, LRRN2, MAPKAPK2, MDM4, MFSD4A, MIR29B2CHG, MIR29C, MYBPH, MYOG, NAV1, NFASC, NUAK2, NUCKS1, OPTC, PCAT6, PFKFB2, PHLDA3, PIGR, PIK3C2B, PKP1, PLEKHA6, PLXNA2, PM20D1, PPFIA4, PPP1R12B, PPP1R15B, PRELP, PTPN7, RAB29, RABIF, RASSF5, RBBP5, REN, RHEX, RNPEP, SHISA4, SLC26A9, SLC41A1, SLC45A3, SNRPE, SOX13, SRGAP2, SYT2, TIMM17A, TMCC2, TMEM183A, TMEM81, TMEM9, TNNI1, TNNT2, UBE2T, YOD1, ZBED6, ZC3H11A
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CLCN1, LOC123956257
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CLDN10
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
RANBP2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SLC25A26
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
70
|
30
|
588
|
999
|
155
|
0 |
1842
|
Fulgent Genetics, Fulgent Genetics
|
9
|
10
|
280
|
144
|
4
|
0 |
447
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
141
|
75
|
206
|
0 |
422
|
Genome-Nilou Lab
|
4
|
14
|
115
|
150
|
86
|
0 |
369
|
Athena Diagnostics
|
0 |
0 |
0 |
0 |
21
|
0 |
21
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
18
|
18
|
OMIM
|
11
|
0 |
0 |
0 |
0 |
0 |
11
|
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences
|
8
|
1
|
1
|
0 |
0 |
0 |
10
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
5
|
1
|
0 |
0 |
7
|
Baylor Genetics
|
0 |
2
|
4
|
0 |
0 |
0 |
6
|
MGZ Medical Genetics Center
|
1
|
2
|
2
|
0 |
0 |
0 |
5
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
Mendelics
|
0 |
1
|
1
|
1
|
0 |
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
DASA
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
3billion
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Pars Genome Lab
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Immunology and Genetics Kaiserslautern
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Molecular Genetics, Research Center of Neurology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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