Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124755 | SCV000168194 | benign | not specified | 2014-03-25 | 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 | RCV000676346 | SCV001016111 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000676346 | SCV001746136 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | DNM1L: BP4, BP7, BS2 |
Mayo Clinic Laboratories, |
RCV000676346 | SCV000802119 | likely benign | not provided | 2016-03-08 | no assertion criteria provided | clinical testing |