Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000978573 | SCV001126502 | likely benign | Charcot-Marie-Tooth disease type 2 | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001184431 | SCV001350399 | likely benign | Cardiomyopathy | 2019-12-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003983810 | SCV004797262 | likely benign | LMNA-related condition | 2022-05-26 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |