Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000438512 | SCV000514878 | benign | not specified | 2015-07-22 | 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 |
RCV000536306 | SCV000642064 | benign | Hereditary motor and sensory neuropathy, Okinawa type; Hereditary spastic paraplegia 57 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001810897 | SCV001159127 | benign | not provided | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000536306 | SCV002800383 | likely benign | Hereditary motor and sensory neuropathy, Okinawa type; Hereditary spastic paraplegia 57 | 2021-08-06 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001810897 | SCV005300566 | benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV004551434 | SCV004739060 | benign | TFG-related disorder | 2019-05-17 | no assertion criteria provided | 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). |