Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000535494 | SCV000650894 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001557601 | SCV001779387 | likely benign | not provided | 2019-12-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002384211 | SCV002691755 | benign | Cardiovascular phenotype | 2021-03-30 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003479158 | SCV004223372 | likely benign | not specified | 2023-11-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003915596 | SCV004731052 | likely benign | FLNC-related disorder | 2022-02-16 | 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). |