Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Daryl Scott Lab, |
RCV001269278 | SCV001448618 | likely pathogenic | Congenital heart defects and skeletal malformations syndrome | 2020-11-11 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001269278 | SCV001522039 | likely pathogenic | Congenital heart defects and skeletal malformations syndrome | 2019-01-20 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |