Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001854651 | SCV002291198 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002515881 | SCV003583497 | likely benign | Inborn genetic diseases | 2021-10-13 | 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. |
Prevention |
RCV003952607 | SCV004784625 | likely benign | KMT2C-related condition | 2024-01-27 | 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). |
ITMI | RCV000121484 | SCV000085678 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |