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 |
55
|
29
|
503
|
181
|
31
|
3
|
774
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
ADSL
|
55
|
29
|
501
|
181
|
31
|
3
|
772
|
ACO2, ADSL, ANKRD54, APOBEC3A, APOBEC3B, APOBEC3C, APOBEC3D, APOBEC3F, APOBEC3G, APOBEC3H, APOL1, APOL2, APOL3, APOL4, APOL5, APOL6, ATF4, BAIAP2L2, C1QTNF6, C22orf23, CACNA1I, CACNG2, CARD10, CBX6, CBX7, CBY1, CCDC134, CDC42EP1, CENPM, CHADL, CIMIP4, CSDC2, CSF2RB, CSNK1E, CYTH4, DDX17, DESI1, DMC1, DNAJB7, DNAL4, EIF3D, EIF3L, ELFN2, ENTHD1, EP300, FAM227A, FAM83F, FOXRED2, GALR3, GCAT, GGA1, GRAP2, GTPBP1, H1-0, HMOX1, IFT27, IL2RB, JOSD1, KCNJ4, KCTD17, KDELR3, L3MBTL2, LGALS1, LGALS2, MAFF, MB, MCHR1, MCM5, MEI1, MFNG, MGAT3, MICALL1, MIEF1, MIR33A, MIR659, MPST, MRTFA, MYH9, NAGA, NCF4, NDUFA6, NOL12, NPTXR, PDGFB, PDXP, PHETA2, PHF5A, PICK1, PLA2G6, PMM1, POLR2F, POLR3H, PVALB, RAC2, RANGAP1, RASD2, RBFOX2, RBX1, RPL3, RPS19BP1, SEPTIN3, SGSM3, SH3BP1, SHISA8, SLC16A8, SLC25A17, SMDT1, SNORD139, SNORD43, SNORD83A, SNORD83B, SNU13, SOX10, SREBF2, SSTR3, ST13, SUN2, SYNGR1, TAB1, TEF, TMEM184B, TMPRSS6, TNFRSF13C, TNRC6B, TOB2, TOMM22, TRIOBP, TST, TXN2, WBP2NL, XPNPEP3, XRCC6, ZC3H7B
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ADSL, ATF4, CACNA1I, ENTHD1, FAM83F, GRAP2, MCHR1, MGAT3, MIEF1, MRTFA, PDGFB, RPL3, RPS19BP1, SGSM3, SNORD139, SNORD43, SNORD83A, SNORD83B, SYNGR1, TAB1, TNRC6B
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
46
|
16
|
477
|
181
|
31
|
0 |
751
|
Illumina Laboratory Services, Illumina
|
1
|
1
|
22
|
0 |
4
|
0 |
28
|
Fulgent Genetics, Fulgent Genetics
|
5
|
0 |
6
|
1
|
0 |
0 |
12
|
Revvity Omics, Revvity
|
4
|
4
|
3
|
0 |
0 |
0 |
11
|
Baylor Genetics
|
2
|
1
|
6
|
0 |
0 |
0 |
9
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
Mendelics
|
3
|
3
|
0 |
0 |
0 |
0 |
6
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Genetic Services Laboratory, University of Chicago
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
MGZ Medical Genetics Center
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
3billion
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Laboratory, Edith Wolfson Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Courtagen Diagnostics Laboratory, Courtagen Life Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Program, Stanford Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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