Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000164080 | SCV000214690 | likely benign | Hereditary cancer-predisposing syndrome | 2014-11-24 | 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. |
Invitae | RCV000476954 | SCV000560346 | likely benign | Birt-Hogg-Dube syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001093242 | SCV000723180 | likely benign | not provided | 2020-10-30 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27734835, 21937013, 19116017, 19562744) |
Ce |
RCV001093242 | SCV001250128 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | FLCN: BP4, BP7 |
Sema4, |
RCV000164080 | SCV002530106 | likely benign | Hereditary cancer-predisposing syndrome | 2021-08-24 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV002267907 | SCV002551330 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002492653 | SCV002802580 | likely benign | Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer | 2022-04-20 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001093242 | SCV004562361 | benign | not provided | 2023-08-23 | criteria provided, single submitter | clinical testing |