Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124750 | SCV000168189 | benign | not specified | 2013-10-04 | 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 | RCV001083579 | SCV000641955 | benign | 3-methylglutaconic aciduria type 5 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000677065 | SCV001335126 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | DNAJC19: BP4, BS2 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000124750 | SCV001338181 | benign | not specified | 2020-02-22 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000677065 | SCV000802901 | benign | not provided | 2016-02-24 | no assertion criteria provided | clinical testing |