Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002067200 | SCV002404999 | benign | not provided | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Dr Goodarzi Genetics and Genomics Lab | RCV000758167 | SCV000886542 | likely pathogenic | Episodic coma | 2018-09-01 | no assertion criteria provided | clinical testing | A novel missense variant (c.3275C>T) p.T1092M located within the exon 22 of the CACNA1E gene was identified in all of the affected children and their mother, while no variant was found in the father or the healthy individuals in the family, and also 100 normal individuals in the control group. Also, this variant was not detected in the Iranian genome project database. |