Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001028003 | SCV001519993 | pathogenic | 3M syndrome 1 | 2020-02-21 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Biochemical Molecular Genetic Laboratory, |
RCV001028003 | SCV001190766 | pathogenic | 3M syndrome 1 | 2020-02-05 | no assertion criteria provided | clinical testing |