Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040740 | SCV000064431 | likely benign | not specified | 2013-02-25 | criteria provided, single submitter | clinical testing | 80305+13C>T in intron 278 of TTN: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. 80 305+13C>T in intron 278 of TTN (allele frequency = n/a) |
Gene |
RCV000040740 | SCV000725294 | likely benign | not specified | 2017-11-22 | 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. |
Invitae | RCV002513569 | SCV003011580 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-10-12 | criteria provided, single submitter | clinical testing |