Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001425571 | SCV001628202 | likely benign | Hereditary sensory neuropathy-deafness-dementia syndrome | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003920924 | SCV004745275 | likely benign | DNMT1-related condition | 2019-09-17 | 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). |