Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000475203 | SCV000544586 | likely benign | Tuberous sclerosis 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000566285 | SCV000675502 | likely benign | Hereditary cancer-predisposing syndrome | 2018-07-25 | criteria provided, single submitter | clinical testing | Co-occurence with mutation in same gene (phase unknown);No disease association in small case-control study |
Gene |
RCV000831461 | SCV000973210 | likely benign | not provided | 2018-06-20 | 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. |
Tuberous sclerosis database |
RCV000055556 | SCV000083780 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation | ||
Istituto Neurologico Mediterraneo, |
RCV000475203 | SCV000994608 | benign | Tuberous sclerosis 2 | 2019-09-27 | no assertion criteria provided | clinical testing |