Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000226513 | SCV000287849 | benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000507447 | SCV000605225 | benign | not specified | 2017-03-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000563318 | SCV000675207 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-06 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Eurofins Ntd Llc |
RCV000507447 | SCV000859970 | likely benign | not specified | 2018-03-12 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000563318 | SCV002535357 | benign | Hereditary cancer-predisposing syndrome | 2021-02-17 | criteria provided, single submitter | curation |