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 |
2
|
2
|
432
|
268
|
29
|
1
|
716
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
TMEM43
|
2
|
2
|
432
|
268
|
29
|
1
|
716
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
1
|
1
|
348
|
240
|
27
|
0 |
617
|
All of Us Research Program, National Institutes of Health
|
1
|
0 |
204
|
74
|
10
|
0 |
289
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
42
|
7
|
5
|
0 |
54
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
13
|
0 |
0 |
0 |
13
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
OMIM
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Mendelics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Heart Center, Academic Medical Center Amsterdam
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Stanford Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Arcensus
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
KardioGenetik, Herz- und Diabeteszentrum NRW
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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