Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001081768 | SCV000166632 | benign | Multiple endocrine neoplasia, type 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000391410 | SCV000362266 | uncertain significance | Pheochromocytoma | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000302880 | SCV000362267 | uncertain significance | Renal hypodysplasia/aplasia 1 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000355396 | SCV000362268 | uncertain significance | Multiple endocrine neoplasia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000263104 | SCV000362269 | uncertain significance | Hirschsprung Disease, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000412200 | SCV000489743 | likely benign | Multiple endocrine neoplasia, type 2b | 2015-12-04 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000409807 | SCV000489744 | likely benign | Multiple endocrine neoplasia, type 2a | 2015-12-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000568383 | SCV000674787 | likely benign | Hereditary cancer-predisposing syndrome | 2016-04-13 | criteria provided, single submitter | clinical testing | Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign) |
Ce |
RCV000123325 | SCV001147862 | likely benign | not provided | 2018-04-01 | criteria provided, single submitter | clinical testing |