Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000474325 | SCV000554490 | benign | Brugada syndrome 8 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000852710 | SCV000995424 | benign | Congestive heart failure | 2019-04-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002383851 | SCV002672577 | likely benign | Cardiovascular phenotype | 2019-08-16 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Center for Genomics, |
RCV003224292 | SCV003920027 | uncertain significance | Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8; Epilepsy, idiopathic generalized, susceptibility to, 18 | 2021-03-30 | criteria provided, single submitter | clinical testing | HCN4 NM_005477.2 exon 3 p.Val415Met (c.1243G>A): This variant has not been reported in the literature but is present in 0.3% (133/35436) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/15-73624600-C-T). This variant is present in ClinVar (Variation ID:412788). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Prevention |
RCV003942503 | SCV004765762 | benign | HCN4-related condition | 2021-04-10 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |