Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000144132 | SCV000976123 | benign | not provided | 2018-06-14 | 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. |
Rett |
RCV000144132 | SCV000189209 | not provided | not provided | flagged submission | not provided | ||
Rett |
RCV000169962 | SCV000222263 | benign | not specified | 2014-03-13 | no assertion criteria provided | curation | Common SNP |