Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000271939 | SCV000339798 | uncertain significance | not provided | 2016-03-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000401622 | SCV000636579 | benign | Kleefstra syndrome 1 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314021 | SCV000849406 | likely benign | Inborn genetic diseases | 2017-05-18 | 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. |
Gene |
RCV000271939 | SCV001848801 | benign | not provided | 2019-08-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003920105 | SCV004727901 | likely benign | EHMT1-related condition | 2024-01-08 | 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). |