Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146985 | SCV000194321 | benign | not specified | 2014-05-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000477252 | SCV000554665 | benign | Familial aplasia of the vermis; Orofaciodigital syndrome I | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316947 | SCV000849909 | benign | Primary ciliary dyskinesia; Inborn genetic diseases | 2017-01-10 | criteria provided, single submitter | clinical testing | This alteration is classified as 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 |
RCV001689688 | SCV001909848 | benign | not provided | 2018-07-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002492533 | SCV002803763 | likely benign | Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10 | 2021-09-27 | criteria provided, single submitter | clinical testing |