Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV001173403 | SCV001336491 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Gene |
RCV001712866 | SCV001940620 | benign | not provided | 2017-08-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002068081 | SCV002346141 | benign | Charcot-Marie-Tooth disease type 2 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002491487 | SCV002795914 | 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 | 2021-10-07 | criteria provided, single submitter | clinical testing |