Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000437699 | SCV000516983 | benign | not specified | 2015-06-09 | 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 | RCV000861164 | SCV001001402 | benign | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000861164 | SCV002554770 | benign | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000861164 | SCV002807289 | likely benign | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2021-10-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003422393 | SCV004156334 | benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | SERAC1: BP4, BP7, BS1, BS2 |