Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000168115 | SCV000218771 | likely benign | Gorlin syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001021985 | SCV001183671 | likely benign | Hereditary cancer-predisposing syndrome | 2018-04-06 | 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. |
Sema4, |
RCV001021985 | SCV002535159 | likely benign | Hereditary cancer-predisposing syndrome | 2021-09-24 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000034577 | SCV004219249 | likely benign | not provided | 2023-08-14 | criteria provided, single submitter | clinical testing | |
Biesecker Lab/Clinical Genomics Section, |
RCV000034577 | SCV000043444 | variant of unknown significance | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Uncertain significance. |
Ambry Genetics | RCV000210573 | SCV000263006 | uncertain significance | Inborn genetic diseases | 2014-07-15 | flagged submission | clinical testing | Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected |