Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001226146 | SCV001398446 | likely benign | Epilepsy, childhood absence 2; Febrile seizures, familial, 8 | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003398970 | SCV004104581 | uncertain significance | GABRG2-related condition | 2023-04-12 | criteria provided, single submitter | clinical testing | The GABRG2 c.394A>T variant is predicted to result in the amino acid substitution p.Ile132Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-161524710-A-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |