Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Medical Genetics, |
RCV001375492 | SCV001439293 | likely pathogenic | Microcephaly | criteria provided, single submitter | research | Analysis of the exome sequencing data showed a novel heterozygous sequence variant in COL4A1 gene. This variant is predicted as Disease Causing by MutationTaster. The variant is not found in ExAC and 1000G databases. Sanger sequencing confirmed the variation in the proband. Segregation analysis in parents confirms that variant is inherited in de novo pattern. | |
Hudson |
RCV002246257 | SCV001439353 | likely pathogenic | Brain small vessel disease 1 with or without ocular anomalies | 2020-05-20 | criteria provided, single submitter | research | ACMG codes:PS2; PM2; PP3 |