Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000972110 | SCV001119804 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000972110 | SCV001830743 | benign | not provided | 2018-09-05 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001819119 | SCV002069759 | benign | not specified | 2017-08-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002503083 | SCV002809513 | likely benign | Acromelic frontonasal dysostosis; Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | 2022-01-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003906033 | SCV004720562 | benign | ZSWIM6-related disorder | 2019-06-11 | 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). |