Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000535522 | SCV000655646 | likely benign | not provided | 2019-01-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000600485 | SCV000726857 | likely benign | not specified | 2018-02-12 | 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. |
Molecular Genetics Laboratory, |
RCV001173664 | SCV001336766 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
ARUP Laboratories, |
RCV001286884 | SCV001473507 | likely benign | none provided | 2020-04-17 | criteria provided, single submitter | clinical testing |