Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000532872 | SCV000651137 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001571883 | SCV001796436 | likely benign | not provided | 2021-10-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001571883 | SCV002586198 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | FLNC: BP4, BP7 |
Ambry Genetics | RCV002367923 | SCV002664433 | likely benign | Cardiovascular phenotype | 2019-12-13 | 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. |
Prevention |
RCV003962563 | SCV004779607 | likely benign | FLNC-related disorder | 2019-08-29 | 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). |