Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000132845 | SCV000513568 | likely benign | not specified | 2018-03-06 | 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 | RCV000645112 | SCV000766854 | benign | Severe neonatal-onset encephalopathy with microcephaly | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000030161 | SCV001142084 | benign | Rett syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV001256044 | SCV001432830 | likely benign | Seizures; Intellectual disability | 2019-12-27 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000030161 | SCV000052819 | benign | Rett syndrome | 2015-05-21 | no assertion criteria provided | clinical testing | |
Rett |
RCV000132845 | SCV000187824 | benign | not specified | 2012-09-27 | no assertion criteria provided | curation |