Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000713013 | SCV000223621 | benign | not provided | 2020-12-18 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 19522081, 31865891, 27207958, 25253298, 30821013) |
Ambry Genetics | RCV000254246 | SCV000319080 | likely benign | Cardiovascular phenotype | 2018-09-29 | criteria provided, single submitter | clinical testing | Insufficient evidence |
Eurofins Ntd Llc |
RCV000713013 | SCV000340803 | uncertain significance | not provided | 2016-05-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001080509 | SCV000647849 | likely benign | Brugada syndrome 5 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000713013 | SCV000843579 | likely benign | not provided | 2017-09-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000719381 | SCV000850247 | likely benign | Seizure | 2017-06-30 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Insufficient evidence |
ARUP Laboratories, |
RCV000713013 | SCV000886077 | uncertain significance | not provided | 2018-02-27 | criteria provided, single submitter | clinical testing | The SCN1B c.632G>A; p.Cys211Tyr variant (rs150721582) has been reported in individuals diagnosed with Brugada syndrome, pediatric idiopathic epilepsy, and congenital atrioventricular block (Orrico 2009, Ricci 2014, Syam 2016), but was also detected in healthy control individuals (Orrico 2009). This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.04% (identified on 107 out of 277,166 chromosomes). The cysteine at position 211 is highly conserved, considering 12 species, and computational analyses of the effects of the p.Cys211Tyr variant on protein structure and function predict a deleterious effect (SIFT: damaging, PolyPhen-2: probably damaging). Based on the available information, the clinical significance of the p.Cys211Tyr variant cannot be determined with certainty. |
Mayo Clinic Laboratories, |
RCV000713013 | SCV001712983 | uncertain significance | not provided | 2019-07-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000713013 | SCV001746566 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | SCN1B: PP3, BP5, BS2 |