Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Pathology and Genetics, |
RCV000656339 | SCV000925757 | likely pathogenic | Split hand-foot malformation 6 | 2019-06-30 | criteria provided, single submitter | clinical testing | More clinical presentation will be seen in accepted publication for Al Ghamdi et al. 2019. |
Baylor Genetics | RCV000656339 | SCV001522970 | pathogenic | Split hand-foot malformation 6 | 2020-01-17 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Center for Genomic Medicine, |
RCV000656339 | SCV004805144 | pathogenic | Split hand-foot malformation 6 | 2024-03-17 | criteria provided, single submitter | research | |
Biochemical Molecular Genetic Laboratory, |
RCV000656339 | SCV000778302 | likely pathogenic | Split hand-foot malformation 6 | 2017-12-05 | no assertion criteria provided | clinical testing |