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 |
30
|
16
|
77
|
70
|
67
|
21
|
272
|
Gene and significance breakdown #
Total genes and gene combinations: 14
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
COL5A1
|
14
|
8
|
36
|
51
|
41
|
11
|
153
|
COL5A1, LOC101448202
|
2
|
2
|
12
|
14
|
25
|
4
|
59
|
COL5A2
|
8
|
1
|
24
|
5
|
0 |
5
|
43
|
COL1A2
|
2
|
4
|
0 |
0 |
1
|
0 |
7
|
ABO, ADAMTS13, ADAMTSL2, AK8, BARHL1, BRD3, CACFD1, CEL, CFAP77, COL5A1, DBH, DDX31, FAM163B, FCN1, FCN2, GBGT1, GFI1B, GLT6D1, GTF3C4, GTF3C5, KCNT1, LCN1, LCN9, LINC02907, MED22, MED27, MRPS2, MYMK, NTNG2, OBP2A, OBP2B, OLFM1, PAEP, PIERCE1, POMT1, PPP1R26, RALGDS, RAPGEF1, REXO4, RNU6ATAC, RPL7A, RXRA, SARDH, SETX, SLC2A6, SOHLH1, SPACA9, STKLD1, SURF1, SURF2, SURF4, SURF6, TSC1, TTF1, UCK1, VAV2, WDR5
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
COL1A1
|
1
|
0 |
0 |
0 |
0 |
1
|
1
|
COL3A1, COL5A2, SLC40A1, WDR75
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
COL5A1, LOC101448202, LOC130002964
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
COL5A1, LOC130002964
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FLNA
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MED12
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MYH11
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SLC2A10
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
TGFBR1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
1
|
55
|
55
|
0 |
111
|
Invitae
|
13
|
5
|
22
|
4
|
0 |
0 |
44
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
5
|
7
|
14
|
0 |
26
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
1
|
20
|
0 |
0 |
0 |
21
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
15
|
15
|
Mendelics
|
3
|
5
|
2
|
1
|
2
|
0 |
13
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
|
0 |
1
|
5
|
5
|
0 |
0 |
11
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
11
|
0 |
0 |
0 |
11
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
Baylor Genetics
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Blueprint Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Division of Biology and Genetics, University of Brescia
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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