Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000681283 | SCV000808745 | benign | not provided | 2018-06-04 | 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 | RCV002060866 | SCV002403762 | benign | Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 | 2022-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253566 | SCV002524519 | benign | Baraitser-winter syndrome 2 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253565 | SCV002524520 | benign | Autosomal dominant nonsyndromic hearing loss 20 | 2021-12-05 | criteria provided, single submitter | clinical testing |