Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001335300 | SCV001528418 | uncertain significance | Fetal akinesia deformation sequence 1 | 2018-01-29 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV002070199 | SCV002411044 | benign | Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 | 2024-01-28 | criteria provided, single submitter | clinical testing |