Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000534013 | SCV000650937 | benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001697312 | SCV000724985 | benign | not provided | 2021-06-08 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27535533) |
Ambry Genetics | RCV002431679 | SCV002728092 | likely benign | Cardiovascular phenotype | 2019-11-11 | 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 |
RCV003905425 | SCV004721605 | likely benign | FLNC-related disorder | 2022-02-15 | 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). |