Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001719061 | SCV000728136 | likely benign | not provided | 2019-11-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000863291 | SCV001003927 | benign | Familial aplasia of the vermis; Orofaciodigital syndrome I | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002457951 | SCV002738488 | likely benign | Primary ciliary dyskinesia; Inborn genetic diseases | 2022-05-02 | 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. |
Prevention |
RCV003953076 | SCV004783098 | likely benign | OFD1-related condition | 2019-09-19 | 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). |