Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000655059 | SCV000776981 | likely benign | Dilated cardiomyopathy 1KK | 2023-04-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002326684 | SCV002630071 | likely benign | Cardiovascular phenotype | 2019-12-12 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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 |
RCV003934852 | SCV004751410 | likely benign | MYPN-related condition | 2019-06-06 | 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). |
Leiden Muscular Dystrophy |
RCV000024494 | SCV000045798 | not provided | not provided | 2012-04-27 | no assertion provided | curation |