Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000123292 | SCV000166599 | likely benign | Multiple endocrine neoplasia, type 2 | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000411914 | SCV000489969 | likely benign | Multiple endocrine neoplasia type 2B | 2016-08-30 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000409399 | SCV000489970 | likely benign | Multiple endocrine neoplasia type 2A | 2016-08-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000565850 | SCV000674864 | likely benign | Hereditary cancer-predisposing syndrome | 2015-09-06 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Fulgent Genetics, |
RCV002492443 | SCV002803744 | likely benign | Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A | 2021-08-18 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV000123292 | SCV004823225 | likely benign | Multiple endocrine neoplasia, type 2 | 2024-01-03 | criteria provided, single submitter | clinical testing |