Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000200388 | SCV000252851 | benign | Multiple endocrine neoplasia, type 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000561761 | SCV000664499 | likely benign | Hereditary cancer-predisposing syndrome | 2015-08-10 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Gene |
RCV000607836 | SCV000729534 | likely benign | not specified | 2017-11-02 | 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. |
Sema4, |
RCV000561761 | SCV002527913 | likely benign | Hereditary cancer-predisposing syndrome | 2021-05-26 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002500618 | SCV002809666 | likely benign | Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia, type 2b; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia, type 2a | 2022-05-06 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000200388 | SCV004357218 | benign | Multiple endocrine neoplasia, type 2 | 2022-10-11 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003736636 | SCV004564980 | benign | not provided | 2023-06-19 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000607836 | SCV004803319 | benign | not specified | 2024-01-13 | criteria provided, single submitter | clinical testing |