Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000118761 | SCV000153285 | benign | not specified | 2013-12-04 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001086196 | SCV000765130 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000643443 | SCV001146421 | benign | not provided | 2018-11-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000643443 | SCV001804043 | likely benign | not provided | 2020-03-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000643443 | SCV002049435 | likely benign | not provided | 2021-01-20 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839901 | SCV002100602 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839902 | SCV002100603 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839903 | SCV002100604 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839900 | SCV002100605 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002444572 | SCV002733292 | likely benign | Cardiovascular phenotype | 2020-01-31 | 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. |
Prevention |
RCV004542859 | SCV004782459 | 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). |