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 | total |
---|---|---|---|---|---|
12 | 9 | 9 | 6 | 0 | 36 |
Gene and significance breakdown #
Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
---|---|---|---|---|---|
KRAS | 5 | 0 | 4 | 6 | 15 |
BRAF | 2 | 0 | 0 | 0 | 2 |
IL17RD | 0 | 1 | 1 | 0 | 2 |
ADGRV1 | 0 | 0 | 1 | 0 | 1 |
CACNA1H | 0 | 0 | 1 | 0 | 1 |
CDH2 | 0 | 1 | 0 | 0 | 1 |
EGFR | 0 | 1 | 0 | 0 | 1 |
ENG | 1 | 0 | 0 | 0 | 1 |
GLI2 | 0 | 0 | 1 | 0 | 1 |
LEMD3 | 1 | 0 | 0 | 0 | 1 |
MAP4K4 | 0 | 1 | 0 | 0 | 1 |
NLRP3 | 1 | 0 | 0 | 0 | 1 |
NOTCH4 | 0 | 0 | 1 | 0 | 1 |
NRIP3-DT, SCUBE2 | 0 | 1 | 0 | 0 | 1 |
PDCD10 | 0 | 1 | 0 | 0 | 1 |
PITPNM3 | 1 | 0 | 0 | 0 | 1 |
PREX2 | 0 | 1 | 0 | 0 | 1 |
SARS1 | 1 | 0 | 0 | 0 | 1 |
SYN3, TIMP3 | 0 | 1 | 0 | 0 | 1 |
ZFYVE16 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
---|---|---|---|---|---|
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital | 4 | 8 | 0 | 0 | 12 |
Fulgent Genetics, Fulgent Genetics | 1 | 0 | 3 | 6 | 10 |
Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 1 | 3 | 0 | 4 |
Arin Greene Laboratory, Boston Children's Hospital, Harvard Medical School | 4 | 0 | 0 | 0 | 4 |
OMIM | 2 | 0 | 0 | 0 | 2 |
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 1 | 0 | 1 | 0 | 2 |
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital | 2 | 0 | 0 | 0 | 2 |
Mendelics | 0 | 0 | 1 | 0 | 1 |
Clinical Genomics Laboratory, Washington University in St. Louis | 1 | 0 | 0 | 0 | 1 |
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital | 0 | 0 | 1 | 0 | 1 |