Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Geisinger Autism and Developmental Medicine Institute, |
RCV000678308 | SCV000804367 | uncertain significance | Complex cortical dysplasia with other brain malformations 7 | 2018-02-26 | criteria provided, single submitter | provider interpretation | This variant was identified in a 4 year old male with mild global developmental delays, receptive/expressive language disorder, hypotonia, microcephaly, and short stature. Brain MRI revealed pachygyria. Ophthalmology and endocrinology evaluations were normal. This patient's mother, who carries this variant, has learning disability; she has not had subsequent brain imaging. This variant is absent from the gnomAD database. Computational models predict it to be deleterious. It has not been previously reported in the literature, to our knowledge. |