Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000385184 | SCV000636592 | likely benign | Kleefstra syndrome 1 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001706614 | SCV001820530 | likely benign | not provided | 2019-11-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002436224 | SCV002751041 | likely benign | Inborn genetic diseases | 2017-10-12 | 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. |
Prevention |
RCV003902429 | SCV004725387 | likely benign | EHMT1-related condition | 2019-06-11 | 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). |