Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000170866 | SCV000223421 | uncertain significance | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Identified independently and in conjunction with additional variants in individuals referred for cardiac genetic testing at GeneDx; segregation data is limited or absent at this time; In silico analysis supports that this missense variant does not alter protein structure/function; p.(R242Q) is located in an alternative transcript of the CACNB2 gene in which no definitive pathogenic variants have been reported in association with cardiogenetic disorders (HGMD); Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015) |
CSER _CC_NCGL, |
RCV000590907 | SCV000700095 | uncertain significance | Brugada syndrome | 2016-10-01 | criteria provided, single submitter | research | Found in patient having exome sequencing for an unrelated indication. No known history of Brugada syndrome. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review. |
Fulgent Genetics, |
RCV002478535 | SCV002784144 | uncertain significance | Brugada syndrome 4 | 2021-08-24 | criteria provided, single submitter | clinical testing |