Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000542349 | SCV000655738 | likely benign | Luscan-Lumish syndrome | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001572972 | SCV001838951 | benign | not provided | 2020-07-13 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000542349 | SCV002553636 | benign | Luscan-Lumish syndrome | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001572972 | SCV004154379 | likely benign | not provided | 2024-04-01 | criteria provided, single submitter | clinical testing | SETD2: BP4, BS1 |
Prevention |
RCV004530568 | SCV004748738 | likely benign | SETD2-related disorder | 2020-03-16 | 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). |
Ambry Genetics | RCV004024333 | SCV004947455 | likely benign | Inborn genetic diseases | 2021-07-26 | 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. |
Laboratory of Diagnostic Genome Analysis, |
RCV001572972 | SCV001798159 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001572972 | SCV001973771 | likely benign | not provided | no assertion criteria provided | clinical testing |