Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156690 | SCV000206411 | likely benign | not specified | 2014-07-21 | criteria provided, single submitter | clinical testing | Glu279Glu in exon 5 of LMNA: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. |
Color Diagnostics, |
RCV001188633 | SCV001355717 | likely benign | Cardiomyopathy | 2019-10-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001465034 | SCV001669017 | likely benign | Charcot-Marie-Tooth disease type 2 | 2022-01-26 | criteria provided, single submitter | clinical testing |