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 |
pathogenic, low penetrance |
not provided |
total |
26
|
9
|
43
|
33
|
11
|
2
|
5
|
110
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
pathogenic, low penetrance |
not provided |
total |
PRNP
|
26
|
9
|
42
|
33
|
11
|
2
|
5
|
109
|
ADAM33, ADISSP, ADRA1D, AP5S1, ATRN, AVP, BMP2, C20orf141, CDC25B, CDS2, CENPB, CHGB, CPXM1, CRLS1, DDRGK1, DNAAF9, EBF4, FASTKD5, FERMT1, GFRA4, GNRH2, GPCPD1, HSPA12B, IDH3B, ITPA, LRRN4, LZTS3, MAVS, MCM8, MIR103A2, MIR1292, MRPS26, NOP56, OXT, PANK2, PCED1A, PCNA, PDYN, PRND, PRNP, PROKR2, PTPRA, RASSF2, RNF24, SHLD1, SIGLEC1, SLC23A2, SLC4A11, SMOX, SNRPB, SPEF1, STK35, TGM3, TGM6, TMC2, TMEM230, TMEM239, TRMT6, UBOX5, VPS16, ZNF343
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
pathogenic, low penetrance |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
9
|
3
|
37
|
30
|
11
|
2
|
0 |
92
|
OMIM
|
23
|
0 |
3
|
0 |
0 |
0 |
0 |
26
|
Fulgent Genetics, Fulgent Genetics
|
1
|
1
|
3
|
4
|
1
|
0 |
0 |
10
|
Mendelics
|
1
|
0 |
1
|
1
|
2
|
0 |
0 |
5
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
5
|
3billion
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
3
|
Centogene AG - the Rare Disease Company
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
0 |
1
|
0 |
0 |
1
|
0 |
0 |
2
|
Undiagnosed Diseases Network, NIH
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
DASA
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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