Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000118792 | SCV000153404 | benign | not specified | 2013-12-04 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001088475 | SCV001003792 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000863179 | SCV001146550 | benign | not provided | 2018-11-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000863179 | SCV001777332 | likely benign | not provided | 2020-03-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000863179 | SCV002047740 | likely benign | not provided | 2021-01-20 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839913 | SCV002101757 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839914 | SCV002101758 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839915 | SCV002101759 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839912 | SCV002101760 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002362749 | SCV002666614 | 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 |
RCV004542864 | SCV004784158 | likely benign | TTN-related disorder | 2019-08-21 | 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). |