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 |
27
|
12
|
218
|
213
|
33
|
1
|
473
|
Gene and significance breakdown #
Total genes and gene combinations: 6
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
ALG12
|
25
|
12
|
215
|
213
|
32
|
0 |
466
|
ALG12, LOC130067776
|
0 |
0 |
2
|
0 |
1
|
0 |
3
|
ADM2, ALG12, ARSA, BRD1, CHKB, CIMAP1B, CPT1B, CRELD2, DENND6B, HDAC10, IL17REL, KLHDC7B, LMF2, MAPK11, MAPK12, MAPK8IP2, MIOX, MLC1, MOV10L1, NCAPH2, PANX2, PIM3, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SYCE3, TRABD, TTLL8, TUBGCP6, TYMP, ZBED4
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ADM2, ALG12, ARSA, CHKB, CPT1B, CRELD2, DENND6B, HDAC10, IL17REL, KLHDC7B, LMF2, MAPK11, MAPK12, MAPK8IP2, MIOX, MLC1, MOV10L1, NCAPH2, ODF3B, PANX2, PIM3, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SYCE3, TRABD, TTLL8, TUBGCP6, TYMP
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ALG1
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
AP4E1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
19
|
6
|
174
|
207
|
28
|
0 |
434
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
54
|
6
|
11
|
0 |
71
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
0 |
9
|
Revvity Omics, Revvity
|
0 |
2
|
3
|
0 |
0 |
0 |
5
|
Baylor Genetics
|
3
|
0 |
1
|
0 |
0 |
0 |
4
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Daryl Scott Lab, Baylor College of Medicine
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
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
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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