Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041682 | SCV000065378 | benign | not specified | 2011-10-03 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000041682 | SCV000231378 | benign | not specified | 2014-09-15 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000972214 | SCV001119911 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000041682 | SCV001160348 | likely benign | not specified | 2018-12-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000972214 | SCV001780280 | likely benign | not provided | 2020-12-10 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 25097241, 26969326) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000041682 | SCV002547768 | benign | not specified | 2022-05-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450744 | SCV004182163 | likely benign | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001274946 | SCV004182164 | likely benign | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000972214 | SCV005261751 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Natera, |
RCV001274946 | SCV001459529 | benign | Usher syndrome type 2A | 2020-05-03 | no assertion criteria provided | clinical testing |