Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000538310 | SCV000651012 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001591258 | SCV001826818 | likely benign | not provided | 2020-10-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002324027 | SCV002626350 | likely benign | Cardiovascular phenotype | 2019-04-19 | 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. |
Ce |
RCV001591258 | SCV004161037 | likely benign | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | FLNC: BP4, BP7 |
Prevention |
RCV003900215 | SCV004716067 | likely benign | FLNC-related disorder | 2020-08-17 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |