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 |
|
31
|
7
|
337
|
153
|
43
|
1
|
558
|
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
SCN1B
|
31
|
7
|
336
|
153
|
43
|
1
|
557
|
|
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
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
30
|
5
|
319
|
150
|
24
|
0 |
528
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
13
|
1
|
26
|
0 |
40
|
|
Fulgent Genetics, Fulgent Genetics
|
2
|
0 |
21
|
4
|
0 |
0 |
27
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Mendelics
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
OMIM
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Phosphorus, Inc.
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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