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 |
46
|
30
|
1404
|
643
|
128
|
1
|
2159
|
Gene and significance breakdown #
Total genes and gene combinations: 31
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
TRPM4
|
6
|
0 |
752
|
469
|
69
|
0 |
1230
|
SCN1B
|
18
|
7
|
279
|
129
|
42
|
1
|
463
|
SCN5A
|
17
|
16
|
298
|
38
|
15
|
0 |
375
|
LOC110121269, SCN5A
|
0 |
1
|
41
|
3
|
2
|
0 |
46
|
RYR2
|
0 |
2
|
4
|
0 |
0 |
0 |
6
|
ANK2
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
DSP
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
HRC, TRPM4
|
2
|
0 |
2
|
3
|
0 |
0 |
3
|
MYBPC3
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
CASQ2
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
DMD
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
KCNQ1
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
MYH6
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
ABCC9
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
AKAP10
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ALKBH6, APLP1, ARHGAP33, ATP4A, CAPNS1, CD22, CLIP3, COX6B1, COX7A1, DMKN, ETV2, FAM187B, FFAR1, FFAR2, FFAR3, FXYD1, FXYD3, FXYD5, FXYD7, GAPDHS, GPR42, HAMP, HAUS5, HCST, HPN, HSPB6, IGFLR1, KIRREL2, KMT2B, KRTDAP, LGI4, LIN37, LRFN3, LSR, MAG, NFKBID, NPHS1, OVOL3, POLR2I, PRODH2, PROSER3, PSENEN, RBM42, SBSN, SCN1B, SDHAF1, SYNE4, TBCB, THAP8, TMEM147, TYROBP, U2AF1L4, UPK1A, USF2, WDR62, ZBTB32
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ANK2, LOC126807137
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
C19orf73, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8, GYS1, HRC, KCNA7, LHB, LIN7B, NTF4, PPFIA3, RUVBL2, SNRNP70, TRPM4
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CACNA1C
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DSG2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
FLNC
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
JUP
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
KCNH2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC126806068, RYR2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC126861897, MHRT, MYH7
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MHRT, MYH7
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MYH7
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
PKP2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
RBM20
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
TTN
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
TTR
|
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
|
20
|
5
|
939
|
574
|
88
|
0 |
1626
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
276
|
52
|
46
|
0 |
374
|
Fulgent Genetics, Fulgent Genetics
|
14
|
6
|
257
|
21
|
6
|
0 |
304
|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
|
3
|
6
|
28
|
2
|
0 |
0 |
39
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
1
|
15
|
0 |
0 |
0 |
17
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
1
|
7
|
6
|
0 |
0 |
0 |
14
|
OMIM
|
11
|
0 |
0 |
0 |
0 |
0 |
11
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
3
|
3
|
0 |
0 |
6
|
Mendelics
|
0 |
0 |
2
|
0 |
2
|
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
3
|
1
|
0 |
0 |
4
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Phosphorus, Inc.
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Traditional Chinese Medicine, Fujian Provincial Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Robert's Program, Boston Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Stanford Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Dr.Nikuei Genetic Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
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