Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001030306 | SCV000633349 | likely benign | Familial cancer of breast | 2023-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000612786 | SCV000719786 | likely benign | not specified | 2017-05-24 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Color Diagnostics, |
RCV000774630 | SCV000908470 | likely benign | Hereditary cancer-predisposing syndrome | 2018-03-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000774630 | SCV001176319 | likely benign | Hereditary cancer-predisposing syndrome | 2015-10-17 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001800743 | SCV002047243 | likely benign | not provided | 2021-06-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004537940 | SCV004755585 | likely benign | PALB2-related disorder | 2023-07-19 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Leiden Open Variation Database | RCV001030306 | SCV001193225 | uncertain significance | Familial cancer of breast | 2019-05-13 | no assertion criteria provided | curation | Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Marc Tischkowitz. |