Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703639 | SCV000520133 | likely benign | not provided | 2020-12-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000649376 | SCV000771203 | likely benign | Hereditary sensory neuropathy-deafness-dementia syndrome | 2023-12-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003932592 | SCV004751176 | likely benign | DNMT1-related condition | 2019-07-09 | 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). |