Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000792340 | SCV000931629 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2019-12-24 | criteria provided, single submitter | clinical testing | This variant, c.1053_1082del, results in the deletion of 10 amino acids of the NDRG1 protein (p.Thr360_Gly369del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with NDRG1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Ce |
RCV000999079 | SCV001155490 | uncertain significance | not provided | 2019-02-01 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001174338 | SCV001337474 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
ARUP Laboratories, |
RCV001286510 | SCV001473096 | likely benign | Charcot-Marie-Tooth disease, type 4D | 2020-05-07 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000792340 | SCV001462044 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2020-09-16 | no assertion criteria provided | clinical testing |