Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000440521 | SCV000530978 | likely benign | not specified | 2017-04-12 | 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. |
ARUP Laboratories, |
RCV000440521 | SCV000602386 | likely benign | not specified | 2017-03-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000953568 | SCV001100142 | likely benign | Combined malonic and methylmalonic acidemia | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003942427 | SCV004758264 | likely benign | ACSF3-related condition | 2019-03-13 | 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). |