Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001087975 | SCV000654904 | likely benign | Nemaline myopathy 9 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000832818 | SCV000974574 | likely benign | not provided | 2021-04-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003980020 | SCV004794391 | benign | KLHL41-related condition | 2019-06-28 | 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). |