Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000080341 | SCV000112236 | benign | not specified | 2013-10-21 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000080341 | SCV000248387 | benign | not specified | 2016-03-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000206456 | SCV000260360 | benign | Familial aplasia of the vermis; Orofaciodigital syndrome I | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000080341 | SCV000309726 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV002316205 | SCV000849771 | benign | Primary ciliary dyskinesia; Inborn genetic diseases | 2017-02-07 | 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. |
Athena Diagnostics Inc | RCV000080341 | SCV001475330 | benign | not specified | 2019-10-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001529335 | SCV001863987 | benign | not provided | 2018-09-20 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 18546297) |
Fulgent Genetics, |
RCV002504862 | SCV002806570 | likely benign | Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10 | 2021-08-30 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV001529335 | SCV001742605 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000080341 | SCV001918636 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001529335 | SCV001931442 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001529335 | SCV001967816 | likely benign | not provided | no assertion criteria provided | clinical testing |