Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000417739 | SCV000515590 | likely benign | not specified | 2016-11-01 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Molecular Genetics Laboratory, |
RCV001173412 | SCV001336500 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
ARUP Laboratories, |
RCV001810900 | SCV001472036 | likely benign | not provided | 2019-07-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002061584 | SCV002406554 | likely benign | Charcot-Marie-Tooth disease type 2 | 2023-11-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002488896 | SCV002797887 | 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 | 2021-08-20 | criteria provided, single submitter | clinical testing |