Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000248641 | SCV000306339 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Genetic Services Laboratory, |
RCV000248641 | SCV000597499 | benign | not specified | 2017-06-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000544987 | SCV000652862 | benign | Joubert syndrome 20; Meckel syndrome, type 11 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000248641 | SCV000714479 | benign | not specified | 2017-09-07 | 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. |
Ce |
RCV003884433 | SCV004698678 | benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | TMEM231: BP4, BS1, BS2 |