Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000226434 | SCV000286120 | benign | Rhabdoid tumor predisposition syndrome 2 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000381443 | SCV000410516 | likely benign | Coffin-Siris syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000565321 | SCV000663950 | likely benign | Hereditary cancer-predisposing syndrome | 2016-01-13 | 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. |
Gene |
RCV001562786 | SCV001785611 | likely benign | not provided | 2021-06-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001808641 | SCV002057116 | benign | Intellectual disability, autosomal dominant 16 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000565321 | SCV002535199 | benign | Hereditary cancer-predisposing syndrome | 2021-02-18 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001562786 | SCV004221237 | benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955321 | SCV004780847 | likely benign | SMARCA4-related disorder | 2023-02-21 | 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). |