Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000235752 | SCV000292741 | likely benign | not specified | 2016-03-02 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Eurofins Ntd Llc |
RCV000235752 | SCV000337838 | likely benign | not specified | 2015-12-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000618019 | SCV000735715 | likely benign | Cardiovascular phenotype | 2016-12-29 | 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. |
Invitae | RCV000861642 | SCV001002015 | benign | Alagille syndrome due to a JAG1 point mutation | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003430798 | SCV004149879 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | JAG1: BP4, BP7, BS1 |
Genetic Services Laboratory, |
RCV000235752 | SCV003839628 | benign | not specified | 2022-07-20 | no assertion criteria provided | clinical testing |