Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000160573 | SCV000211158 | benign | not specified | 2013-11-05 | 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. |
Prevention |
RCV000160573 | SCV000311122 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Counsyl | RCV000411280 | SCV000488901 | likely benign | Ataxia-telangiectasia-like disorder 1 | 2016-07-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002229428 | SCV002509459 | benign | Ataxia-telangiectasia-like disorder | 2024-01-31 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV000411280 | SCV004015928 | benign | Ataxia-telangiectasia-like disorder 1 | 2023-07-07 | criteria provided, single submitter | clinical testing |