Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000655058 | SCV001472822 | likely benign | not provided | 2020-08-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001418747 | SCV001620982 | likely benign | Dilated cardiomyopathy 1KK | 2022-08-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000655058 | SCV001793422 | likely benign | not provided | 2019-07-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343394 | SCV002651478 | likely benign | Cardiovascular phenotype | 2021-05-10 | 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 |
RCV003892501 | SCV004714473 | likely benign | MYPN-related condition | 2021-03-22 | 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). |