Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000768076 | SCV000898948 | uncertain significance | Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 | 2017-11-02 | criteria provided, single submitter | clinical testing | SCN1A NM_001165963.1 exon 11 p.Asn601= (c.1803C>T): This variant has not been reported in the literature but is present in 4/15302 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs139403702). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Gene |
RCV000828047 | SCV000969723 | likely benign | not provided | 2020-04-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001400963 | SCV001602774 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2021-05-13 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV003224357 | SCV003920416 | uncertain significance | Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B | 2021-03-30 | criteria provided, single submitter | clinical testing | SCN1A NM_001165963 exon 11 p.Asn601Asn (c.1803C>T): This variant has not been reported in the literature but is present in 4/15302 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs139403702). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |