Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000117215 | SCV000151380 | uncertain significance | not provided | 2014-03-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000599889 | SCV000725374 | likely benign | not specified | 2017-12-22 | 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. |
Invitae | RCV001520721 | SCV001729896 | benign | Methylmalonic acidemia with homocystinuria, type cblX | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000117215 | SCV004165022 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | HCFC1: PP2, BP4, BS2 |
Prevention |
RCV003952568 | SCV004776308 | likely benign | HCFC1-related condition | 2020-09-30 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Laboratory of Diagnostic Genome Analysis, |
RCV000117215 | SCV001798028 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000117215 | SCV001930386 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000117215 | SCV001972886 | likely benign | not provided | no assertion criteria provided | clinical testing |