Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000455282 | SCV000538552 | uncertain significance | not specified | 2016-10-20 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Arg1906Gln on HGMD transcript. Reported in 1 LQT proband |
Invitae | RCV000473271 | SCV000553035 | likely benign | Long QT syndrome | 2023-12-14 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000852445 | SCV000995137 | uncertain significance | Primary dilated cardiomyopathy | 2017-05-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001550202 | SCV001770497 | uncertain significance | not provided | 2020-02-07 | criteria provided, single submitter | clinical testing | 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: 31179551, 25184293, 23677916) |
Ambry Genetics | RCV002348254 | SCV002647618 | likely benign | Cardiovascular phenotype | 2023-08-03 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Fulgent Genetics, |
RCV002481357 | SCV002785431 | uncertain significance | Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 | 2021-09-30 | criteria provided, single submitter | clinical testing |