Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000518399 | SCV000616188 | likely benign | not specified | 2017-05-05 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001088427 | SCV000765009 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2025-01-19 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000734454 | SCV000862598 | uncertain significance | not provided | 2018-07-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000734454 | SCV001793399 | likely benign | not provided | 2020-12-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002367721 | SCV002662940 | likely benign | Cardiovascular phenotype | 2021-05-28 | 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. |
Revvity Omics, |
RCV000734454 | SCV003825462 | likely benign | not provided | 2023-09-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004537865 | SCV004709282 | likely benign | TTN-related disorder | 2022-06-29 | no assertion criteria provided | 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). |