Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189920 | SCV000243583 | benign | not specified | 2016-11-23 | 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 | RCV001083121 | SCV000285367 | benign | Tuberous sclerosis 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000571393 | SCV000675466 | benign | Hereditary cancer-predisposing syndrome | 2015-07-23 | criteria provided, single submitter | clinical testing | General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |
Biesecker Lab/Clinical Genomics Section, |
RCV000034652 | SCV000043535 | variant of unknown significance | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Uncertain significance. |
Tuberous sclerosis database |
RCV000054868 | SCV000067095 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |