Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000118763 | SCV000153293 | benign | not specified | 2013-12-04 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001086198 | SCV001003794 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2025-02-03 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000863181 | SCV001146426 | benign | not provided | 2018-11-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000863181 | SCV001768094 | likely benign | not provided | 2020-03-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000863181 | SCV002047741 | likely benign | not provided | 2021-01-20 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839905 | SCV002100558 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839906 | SCV002100559 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839907 | SCV002100560 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839904 | SCV002100561 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426664 | SCV002742679 | benign | Cardiovascular phenotype | 2020-01-31 | 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. |
Prevention |
RCV004542860 | SCV004782675 | likely benign | TTN-related disorder | 2019-08-21 | 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). |