Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041933 | SCV000065629 | benign | not specified | 2009-06-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000041933 | SCV000317214 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000041933 | SCV000336220 | benign | not specified | 2015-10-15 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000434576 | SCV000511020 | benign | not provided | 2016-07-22 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000434576 | SCV001156997 | benign | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000434576 | SCV001722032 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001273712 | SCV001750318 | benign | Usher syndrome type 2A | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000434576 | SCV001941381 | benign | not provided | 2019-01-16 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 19737284, 21569298, 25528277, 17085681, 18273898, 30245029) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000041933 | SCV002051057 | likely benign | not specified | 2021-12-10 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496668 | SCV002809087 | benign | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2022-01-04 | criteria provided, single submitter | clinical testing | |
Dept Of Ophthalmology, |
RCV003888411 | SCV004707922 | benign | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
Natera, |
RCV001273712 | SCV001457082 | benign | Usher syndrome type 2A | 2020-09-16 | no assertion criteria provided | clinical testing |