Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000433890 | SCV000531607 | likely benign | not specified | 2017-08-30 | 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 |
RCV000559507 | SCV000642711 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002488953 | SCV002803340 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-10-14 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003138005 | SCV003820328 | likely benign | not provided | 2023-09-04 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003138005 | SCV005093032 | likely benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |