Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000427227 | SCV000521871 | likely benign | not specified | 2017-12-26 | 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, |
RCV001174280 | SCV001337410 | benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Invitae | RCV002230250 | SCV002509678 | benign | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U | 2024-01-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001702451 | SCV004564714 | benign | not provided | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000427227 | SCV001921071 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001702451 | SCV001931006 | likely benign | not provided | no assertion criteria provided | clinical testing |