Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000562778 | SCV000672800 | likely benign | Hereditary cancer-predisposing syndrome | 2017-06-29 | 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. |
Invitae | RCV000649831 | SCV000771665 | likely benign | BAP1-related tumor predisposition syndrome | 2023-11-17 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000733232 | SCV000861273 | uncertain significance | not provided | 2018-05-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000733232 | SCV000973311 | likely benign | not provided | 2018-06-14 | 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, |
RCV000562778 | SCV001341651 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003900275 | SCV004714618 | likely benign | BAP1-related condition | 2022-06-03 | 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). |