Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724565 | SCV000227215 | uncertain significance | not provided | 2015-03-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724565 | SCV000242461 | uncertain significance | not provided | 2022-12-13 | criteria provided, single submitter | clinical testing | Reported as a de novo change in an individual with clinical features of borderline Dravet syndrome; however, paternity was not established (Zuberi et al., 2011). In the same paper, H127D was identified in another individual with classic Dravet syndrome who had another missense variant (P1451S) in SCN1A (Zuberi et al., 2011).; Missense variants in this gene are often considered pathogenic (HGMD); This substitution is predicted to be in the N-terminal cytoplasmic domain; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 20831750, 21248271, 28150151, 28202706, 29655203, 32090326, 32725632, 34598035) |
Invitae | RCV000474474 | SCV000548782 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764287 | SCV000895306 | uncertain significance | Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000724565 | SCV004033780 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | SCN1A: PM5, PP3, BS2 |
Diagnostic Laboratory, |
RCV000724565 | SCV001739893 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000724565 | SCV001957154 | uncertain significance | not provided | no assertion criteria provided | clinical testing |