Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124756 | SCV000168195 | benign | not specified | 2013-12-17 | 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. |
Preventiongenetics, |
RCV000124756 | SCV000311816 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000676347 | SCV001015832 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000676347 | SCV002049549 | benign | not provided | 2023-11-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000676347 | SCV004033194 | benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | DNM1L: BP4, BP7, BS1, BS2 |
Mayo Clinic Laboratories, |
RCV000676347 | SCV000802120 | benign | not provided | 2017-08-07 | no assertion criteria provided | clinical testing |