Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001171973 | SCV000533168 | likely benign | not provided | 2021-01-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003891269 | SCV001031393 | likely benign | Ehlers-Danlos syndrome progeroid type | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001171973 | SCV001334896 | likely benign | not provided | 2020-03-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003932675 | SCV004748494 | benign | B4GALT7-related condition | 2019-06-03 | 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). |