Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000127899 | SCV000171485 | benign | not specified | 2012-12-31 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Eurofins Ntd Llc |
RCV000127899 | SCV000228930 | benign | not specified | 2014-09-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000127899 | SCV000615048 | benign | not specified | 2017-02-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001082771 | SCV000647854 | benign | Brugada syndrome 5 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586689 | SCV000700046 | benign | not provided | 2016-05-16 | criteria provided, single submitter | clinical testing | Variant summary: The SCN1B c.267C>T (p.Arg89=) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. 4/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. This variant was found in 85/121400 control chromosomes at a frequency of 0.0007002, which is approximately 70 times of the estimated maximal allele frequency of a pathogenic SCN1B variant (0.00001), suggesting this variant is a benign polymorphism. The variant was found to co-occure with a pathogenic variant, c.573_577delGCGCT in KCNH2, further suggesting non-pathogenic nature of the variant of interest. In addition, several clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as Benign. |
Ambry Genetics | RCV000620631 | SCV000737594 | likely benign | Cardiovascular phenotype | 2016-06-14 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign |
Ambry Genetics | RCV000719128 | SCV000849992 | likely benign | Seizure | 2016-06-14 | criteria provided, single submitter | clinical testing | Synonymous alterations with insufficient evidence to classify as benign |
Ce |
RCV000586689 | SCV002498456 | likely benign | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing | SCN1B: BP4, BP7 |
Fulgent Genetics, |
RCV002483257 | SCV002802748 | likely benign | Generalized epilepsy with febrile seizures plus, type 1; Brugada syndrome 5; Atrial fibrillation, familial, 13; Developmental and epileptic encephalopathy, 52 | 2022-01-12 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000586689 | SCV003800004 | likely benign | not provided | 2022-06-30 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000127899 | SCV001921576 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000586689 | SCV001928504 | likely benign | not provided | no assertion criteria provided | clinical testing |