Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000757006 | SCV000885027 | benign | Autosomal dominant slowed nerve conduction velocity | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001672950 | SCV001887391 | benign | not provided | 2021-05-04 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 25164601) |
Invitae | RCV001672950 | SCV002419042 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003975302 | SCV004797711 | benign | ARHGEF10-related condition | 2019-10-18 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Inherited Neuropathy Consortium | RCV000789723 | SCV000929100 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |