Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000032933 | SCV000056705 | pathogenic | Complex cortical dysplasia with other brain malformations 7 | 2012-09-01 | no assertion criteria provided | literature only | |
Foundation for Research in Genetics and Endocrinology, |
RCV000032933 | SCV000854644 | uncertain significance | Complex cortical dysplasia with other brain malformations 7 | 2018-11-12 | no assertion criteria provided | clinical testing | The observed variant c.767A>G (p.Asn256Ser) has not been reported in 1000 Genomes and ExAC databases. The in silico prediction of the given variant is possibly damaging by PolyPhen-2 and damaging by MutationTaster2, SIFT and LRT. |