Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000432983 | SCV000514185 | benign | not specified | 2016-02-02 | 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. |
Labcorp Genetics |
RCV001081598 | SCV000562724 | benign | Charcot-Marie-Tooth disease, type I | 2025-01-30 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000469780 | SCV001145111 | benign | not provided | 2018-09-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002356527 | SCV002623070 | likely benign | Inborn genetic diseases | 2019-07-11 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Fulgent Genetics, |
RCV002506017 | SCV002809111 | likely benign | Guillain-Barre syndrome, familial; Hereditary liability to pressure palsies; Roussy-Lévy syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease, type IA; Dejerine-Sottas disease | 2022-01-03 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000469780 | SCV003800419 | benign | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing |