Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001081695 | SCV001020965 | benign | Leber congenital amaurosis 2; Retinitis pigmentosa 20 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001102525 | SCV001259203 | uncertain significance | Retinitis pigmentosa | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001102526 | SCV001259204 | likely benign | Leber congenital amaurosis 2 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Gene |
RCV000085197 | SCV001902416 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Retina International | RCV000085197 | SCV000117334 | not provided | not provided | no assertion provided | not provided | ||
Natera, |
RCV001275331 | SCV001460405 | benign | Leber congenital amaurosis | 2020-09-16 | no assertion criteria provided | clinical testing |