Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000426869 | SCV000528526 | likely benign | not specified | 2016-06-06 | 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. |
Genetic Services Laboratory, |
RCV000426869 | SCV000596072 | likely benign | not specified | 2016-07-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002318467 | SCV000851770 | likely benign | Inborn genetic diseases | 2017-05-30 | 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. |
Invitae | RCV000863085 | SCV001003683 | likely benign | Pitt-Hopkins-like syndrome 2 | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003970191 | SCV004777252 | likely benign | NRXN1-related condition | 2019-09-10 | 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). |