Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001334833 | SCV001527801 | uncertain significance | COACH syndrome 1 | 2018-03-20 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Labcorp Genetics |
RCV002070192 | SCV002372834 | likely benign | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2024-09-11 | criteria provided, single submitter | clinical testing |