Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000230140 | SCV000291545 | likely benign | Charcot-Marie-Tooth disease type 2 | 2023-10-22 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000772067 | SCV000905096 | likely benign | Cardiomyopathy | 2018-10-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002494669 | SCV002798406 | likely benign | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive; Restrictive dermopathy 2 | 2021-08-11 | criteria provided, single submitter | clinical testing |