Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001083878 | SCV000166305 | benign | Gorlin syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000563051 | SCV000674517 | benign | Hereditary cancer-predisposing syndrome | 2016-11-01 | 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. |
Gene |
RCV000034565 | SCV001855881 | benign | not provided | 2020-04-13 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31180159, 22995991, 24204797, 22313357, 22703879, 11941477, 24728327) |
Sema4, |
RCV000563051 | SCV002526850 | benign | Hereditary cancer-predisposing syndrome | 2020-04-28 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000121886 | SCV002773939 | benign | not specified | 2021-08-16 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000008706 | SCV000028915 | pathogenic | Holoprosencephaly 7 | 2002-04-01 | no assertion criteria provided | literature only | |
Biesecker Lab/Clinical Genomics Section, |
RCV000034565 | SCV000043455 | variant of unknown significance | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Uncertain significance. |
ITMI | RCV000121886 | SCV000086089 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |