Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000428513 | SCV000516052 | pathogenic | not provided | 2020-05-06 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 20437616, 9425895, 25982755) |
Gene |
RCV000678182 | SCV000484628 | not provided | Seizures, benign familial neonatal, 1 | no assertion provided | literature only | BFNE (benign familial neonatal epilepsy) |