Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000313708 | SCV000342435 | uncertain significance | not provided | 2016-06-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001089190 | SCV001013763 | benign | Alagille syndrome due to a JAG1 point mutation | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002436121 | SCV002747277 | benign | Cardiovascular phenotype | 2022-01-10 | criteria provided, single submitter | clinical testing | This alteration is classified as 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 |
RCV003920143 | SCV004735308 | likely benign | JAG1-related condition | 2022-01-18 | 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). |