Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000651448 | SCV000773299 | likely benign | Dilated cardiomyopathy 1JJ | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001712539 | SCV001939611 | likely benign | not provided | 2020-12-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002440363 | SCV002749446 | likely benign | Cardiovascular phenotype | 2019-08-02 | 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 |
RCV003918064 | SCV004743073 | likely benign | LAMA4-related condition | 2019-09-17 | 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). |