Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000248221 | SCV000309731 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000248221 | SCV000518610 | benign | not specified | 2016-10-06 | 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. |
Center for Pediatric Genomic Medicine, |
RCV000514293 | SCV000610070 | benign | not provided | 2017-06-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001516950 | SCV001725325 | benign | Familial aplasia of the vermis; Orofaciodigital syndrome I | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002479967 | SCV002799064 | likely benign | Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10 | 2021-07-23 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000248221 | SCV001740114 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000248221 | SCV001917907 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000248221 | SCV001929006 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000248221 | SCV001970302 | benign | not specified | no assertion criteria provided | clinical testing |