Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000294105 | SCV000338247 | uncertain significance | not provided | 2016-01-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001080613 | SCV000650985 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000294105 | SCV001767910 | likely benign | not provided | 2020-02-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002450815 | SCV002613338 | likely benign | Cardiovascular phenotype | 2019-07-15 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV003150150 | SCV003837897 | likely benign | Cardiomyopathy | 2023-02-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003947893 | SCV004770859 | likely benign | FLNC-related disorder | 2023-02-03 | 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). |