Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rady Children's Institute for Genomic Medicine, |
RCV000853391 | SCV000996269 | likely pathogenic | Complex cortical dysplasia with other brain malformations 7 | 2019-03-27 | criteria provided, single submitter | clinical testing | This variant is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. In silico tools used to predict the effect of this variant on protein function yield discordant results. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.1070C>T (p.Pro357Leu) variant is classified as likely pathogenic. |
Baylor Genetics | RCV000853391 | SCV001524037 | likely pathogenic | Complex cortical dysplasia with other brain malformations 7 | 2019-04-09 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |