Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001085948 | SCV000816356 | likely benign | Tuberous sclerosis 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000688733 | SCV001150693 | uncertain significance | not provided | 2019-03-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001011980 | SCV001172375 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-01-15 | criteria provided, single submitter | clinical testing | In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Insufficient evidence;Other data supporting pathogenic classification |
Tuberous sclerosis database |
RCV000055200 | SCV000083418 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |