Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000638948 | SCV000760505 | benign | Familial aplasia of the vermis; Orofaciodigital syndrome I | 2023-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315959 | SCV000847695 | likely benign | Primary ciliary dyskinesia; Inborn genetic diseases | 2016-08-30 | 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. |
Gene |
RCV001709677 | SCV001937913 | benign | not provided | 2020-02-28 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 29955609, 32047782) |
Dept Of Ophthalmology, |
RCV003889940 | SCV004707059 | benign | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research |