Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001328713 | SCV001519889 | likely pathogenic | Short-rib thoracic dysplasia 19 with or without polydactyly | 2020-01-27 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Center for Genomic Medicine, |
RCV001328713 | SCV004807096 | pathogenic | Short-rib thoracic dysplasia 19 with or without polydactyly | 2024-03-26 | criteria provided, single submitter | clinical testing |