Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001720462 | SCV001947530 | benign | not provided | 2020-10-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001720462 | SCV002347521 | likely benign | not provided | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002539731 | SCV003593393 | likely benign | Inborn genetic diseases | 2021-11-12 | 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. |
Prevention |
RCV003968515 | SCV004788722 | likely benign | KMT2A-related disorder | 2024-02-08 | 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). |