Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000883938 | SCV001027280 | likely benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000883938 | SCV001770889 | likely benign | not provided | 2019-03-01 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24728327) |
Prevention |
RCV003925211 | SCV004742644 | likely benign | SMO-related condition | 2022-04-25 | 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). |
ITMI | RCV000122074 | SCV000086289 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |