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 |
8
|
0 |
60
|
2
|
4
|
3
|
71
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Gene or gene combination |
pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
B4GALT7
|
8
|
54
|
2
|
4
|
3
|
65
|
B4GALT7, LOC129995400
|
0 |
4
|
0 |
0 |
0 |
4
|
B4GALT7, CLK4, COL23A1, FAM153A, GRM6, HNRNPAB, N4BP3, NHP2, PHYKPL, PROP1, RMND5B, ZFP2, ZNF354A, ZNF354B, ZNF454
|
0 |
1
|
0 |
0 |
0 |
1
|
B4GALT7, DBN1, DDX41, DOK3, EIF4E1B, F12, FAM153A, FAM193B, FGFR4, GRK6, HK3, LMAN2, MXD3, NSD1, PDLIM7, PFN3, PRELID1, PROP1, PRR7, RAB24, RGS14, SLC34A1, SNCB, TMED9, TSPAN17, UIMC1, UNC5A, ZNF346
|
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
0 |
57
|
1
|
0 |
0 |
58
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
7
|
Genome-Nilou Lab
|
0 |
0 |
0 |
4
|
0 |
4
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
3
|
3
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
1
|
2
|
0 |
3
|
Baylor Genetics
|
0 |
2
|
0 |
0 |
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
2
|
0 |
2
|
Mendelics
|
0 |
0 |
0 |
1
|
0 |
1
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
0 |
0 |
0 |
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Division of Biology and Genetics, University of Brescia
|
1
|
0 |
0 |
0 |
0 |
1
|
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