Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000195092 | SCV000247008 | likely benign | not specified | 2015-01-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001721249 | SCV000519219 | likely benign | not provided | 2020-06-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000533227 | SCV000634140 | benign | Familial infantile myasthenia | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000533227 | SCV002794946 | likely benign | Familial infantile myasthenia | 2021-08-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003895243 | SCV004708805 | benign | CHAT-related disorder | 2020-10-12 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |