Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000465974 | SCV000552261 | benign | Tuberous sclerosis 1 | 2017-12-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000568811 | SCV000675354 | likely benign | Hereditary cancer-predisposing syndrome | 2016-10-26 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s),In silico models in agreement (benign) |
Tuberous sclerosis database |
RCV000054874 | SCV000083089 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation | ||
ITMI | RCV000122199 | SCV000086418 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |