Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001263526 | SCV001524993 | uncertain significance | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 2020-04-07 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Human Genome Sequencing Center Clinical Lab, |
RCV001263526 | SCV001250727 | likely pathogenic | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 2020-05-08 | no assertion criteria provided | clinical testing |