Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000246786 | SCV000312865 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000246786 | SCV000728483 | likely benign | not specified | 2017-02-21 | 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 | RCV000862170 | SCV001002635 | benign | Familial aplasia of the vermis | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003430808 | SCV004160352 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | AHI1: BP4, BS2 |