Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000680090 | SCV000807530 | uncertain significance | Severe myoclonic epilepsy in infancy | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory de novo in a 9-year-old female with autism, regression, global delays, refractory epilepsy (onset at 2y), dysmorphisms, short stature, joint laxity, scoliosis, hypohydrosis, thin hair, significant myopia |