Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000248393 | SCV000302887 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Mendelics | RCV000989741 | SCV001140285 | benign | Cone-rod dystrophy 6 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001517915 | SCV001726523 | benign | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001651111 | SCV001870098 | benign | not provided | 2018-07-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 11035546, 17964524, 18161624, 29178642, 17344846, 20079931, 16741161) |
Genome- |
RCV001702377 | SCV001934045 | benign | Choroidal dystrophy, central areolar, 1 | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000989741 | SCV001934046 | benign | Cone-rod dystrophy 6 | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001701716 | SCV001934047 | benign | Leber congenital amaurosis 1 | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001702378 | SCV001934048 | benign | Night blindness, congenital stationary, type1i | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001651111 | SCV005251563 | benign | not provided | criteria provided, single submitter | not provided |