Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000198656 | SCV000251704 | benign | not specified | 2014-12-19 | 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. |
Invitae | RCV000206860 | SCV000261160 | benign | Charcot-Marie-Tooth disease, type 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000269301 | SCV000347999 | uncertain significance | Hereditary motor and sensory neuropathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000206860 | SCV000348000 | uncertain significance | Charcot-Marie-Tooth disease, type 2 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000658494 | SCV000780262 | likely benign | not provided | 2018-03-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000658494 | SCV001143628 | benign | not provided | 2019-03-08 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001173007 | SCV001336082 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
ARUP Laboratories, |
RCV001285746 | SCV001472226 | likely benign | none provided | 2020-04-27 | criteria provided, single submitter | clinical testing |