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 |
---|---|---|---|---|---|
122 | 0 | 72 | 0 | 0 | 193 |
Gene and significance breakdown #
Condition and significance breakdown #
Condition | pathogenic | uncertain significance | total |
---|---|---|---|
See cases | 105 | 52 | 157 |
Autism | 2 | 7 | 9 |
FETAL DEMISE | 3 | 1 | 4 |
MISSED ABORTION | 2 | 2 | 4 |
Klinefelter syndrome | 3 | 0 | 3 |
Dysmorphic features | 0 | 2 | 2 |
Anemia, unspecified | 1 | 0 | 1 |
CYSTIC HYGROMA, VSD | 0 | 1 | 1 |
Chromosome 16 trisomy | 0 | 1 | 1 |
Complete trisomy 21 syndrome | 1 | 0 | 1 |
Congenital omphalocele | 0 | 1 | 1 |
Craniofacial microsomia 1 | 0 | 1 | 1 |
Cystic hygroma | 0 | 1 | 1 |
DiGeorge syndrome | 0 | 1 | 1 |
ENLARGED PULMONARY ARTERY, OMPHALOCELE | 0 | 1 | 1 |
HETEROTAXY, TGA | 1 | 0 | 1 |
Hypotonia | 1 | 0 | 1 |
Microcephaly | 1 | 0 | 1 |
Motor development delay | 1 | 0 | 1 |
Newborn respiratory distress syndrome | 0 | 1 | 1 |
Tetralogy of Fallot | 0 | 1 | 1 |
Unilateral renal agenesis | 0 | 1 | 1 |
musculoskeletal system issues | 1 | 0 | 1 |