Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163762 | SCV000214340 | benign | Hereditary cancer-predisposing syndrome | 2019-07-16 | criteria provided, single submitter | clinical testing | This alteration is classified as 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 | RCV000543424 | SCV000632836 | likely benign | Birt-Hogg-Dube syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765335 | SCV000896598 | uncertain significance | Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Carcinoma of colon; Nonpapillary renal cell carcinoma | 2018-10-31 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000121099 | SCV000085267 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |