Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000470452 | SCV000557606 | likely benign | Alagille syndrome due to a JAG1 point mutation | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000592068 | SCV000709358 | likely benign | not specified | 2018-08-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001712316 | SCV001942108 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002393190 | SCV002695956 | likely benign | Cardiovascular phenotype | 2018-01-15 | 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. |
Ce |
RCV001712316 | SCV004149883 | benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | JAG1: BS1, BS2 |