Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Soonchunhyang University Bucheon Hospital, |
RCV000490487 | SCV000267543 | uncertain significance | Progressive familial heart block type IB | 2016-03-18 | criteria provided, single submitter | reference population | |
Invitae | RCV000490487 | SCV002447818 | likely benign | Progressive familial heart block type IB | 2021-11-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002433921 | SCV002751237 | likely benign | Cardiovascular phenotype | 2019-09-26 | 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. |
Gene |
RCV000870012 | SCV003798930 | uncertain significance | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | Reported in an individual with DCM and sick sinus syndrome and in an individual with atrioventricular nodal reentry tachycardia; described as c.2985_3012del in both cases (Li et al., 2020; Luo et al., 2020); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; This variant is associated with the following publications: (PMID: 32508047, 31521807) |