Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000210536 | SCV000266786 | benign | Tuberous sclerosis 2 | 2015-11-10 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000455128 | SCV000540601 | likely benign | not specified | 2016-03-28 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Intronic del, ExAC: 0.4% (32/8548) East Asian chromosomes; No assertions in clinvar |
Gene |
RCV000455128 | SCV000565913 | likely benign | not specified | 2015-10-28 | 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 |
RCV000055266 | SCV000067096 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation | ||
Tuberous sclerosis database |
RCV000055266 | SCV000083485 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |