Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000431868 | SCV000515192 | benign | not specified | 2017-01-10 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV000475926 | SCV000555099 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840537 | SCV002101908 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840538 | SCV002101920 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840539 | SCV002101931 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840536 | SCV002101942 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002402130 | SCV002674624 | likely benign | Cardiovascular phenotype | 2021-11-17 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000431868 | SCV003801258 | likely benign | not specified | 2023-01-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003333971 | SCV004042094 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |
Athena Diagnostics | RCV000431868 | SCV005621618 | benign | not specified | 2024-07-16 | criteria provided, single submitter | clinical testing |