Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002088521 | SCV002387467 | likely benign | Alagille syndrome due to a JAG1 point mutation | 2022-11-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002498314 | SCV002811868 | likely benign | Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, Type 2HH | 2021-07-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003161463 | SCV003896045 | likely benign | Cardiovascular phenotype | 2022-12-14 | 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. |