Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000171023 | SCV000050710 | benign | not provided | 2020-02-21 | criteria provided, single submitter | research | |
Blueprint Genetics | RCV000193746 | SCV000207216 | likely benign | not specified | 2015-11-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000171023 | SCV000223587 | benign | not provided | 2018-07-13 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28704380, 24529773) |
Agnes Ginges Centre for Molecular Cardiology, |
RCV000172897 | SCV000223888 | likely benign | Long QT syndrome | 2015-03-27 | criteria provided, single submitter | research | The SCN1B Val138Ile variant has been previously reported. It is observed in the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/) with an allele frequency of 0.012 (1418/121366 alleles); and the frequency in the South Asian subpopulation is 0.08. In-silico software tools predict this variant to be tolerable (SIFT "tolerated"; PholyPhen2 "benign", MutationTaster "polymorphism"). We identified this variant in a female with an undetermined heart disease, normal echocardiogram, paroxysmal atrial fibrillation and non-sustained ventricular tachycardia. There is no clear family history of disease. Based on the high frequency (>1%) observed in the general population, we have classified this variant as "likely benign". |
Genetic Services Laboratory, |
RCV000193746 | SCV000248800 | likely benign | not specified | 2015-05-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084740 | SCV000252899 | benign | Brugada syndrome 5 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000248951 | SCV000318186 | benign | Cardiovascular phenotype | 2019-09-16 | criteria provided, single submitter | clinical testing | General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign) |
Illumina Laboratory Services, |
RCV001084740 | SCV000411522 | benign | Brugada syndrome 5 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Illumina Laboratory Services, |
RCV000401928 | SCV000411524 | benign | Generalized epilepsy with febrile seizures plus, type 1 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Ambry Genetics | RCV000715751 | SCV000846582 | benign | Seizure | 2015-06-26 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000171023 | SCV001145385 | benign | not provided | 2019-03-08 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000171023 | SCV002048976 | benign | not provided | 2020-10-29 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV000171023 | SCV001797657 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000193746 | SCV001925642 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000171023 | SCV001932319 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000193746 | SCV001954234 | benign | not specified | no assertion criteria provided | clinical testing |