Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000616149 | SCV000718853 | likely benign | not specified | 2017-04-21 | 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 | RCV000874663 | SCV001016867 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003326472 | SCV004033800 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000616149 | SCV004038598 | likely benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing |