Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001720187 | SCV000524207 | benign | not provided | 2019-10-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000552950 | SCV000651280 | benign | Hereditary sensory neuropathy-deafness-dementia syndrome | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001720187 | SCV004700938 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | DNMT1: BP4, BP7 |
Prevention |
RCV003922771 | SCV004738992 | benign | DNMT1-related condition | 2019-09-17 | 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). |