Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000132690 | SCV000224682 | uncertain significance | not provided | 2014-06-10 | criteria provided, single submitter | clinical testing | |
Soonchunhyang University Bucheon Hospital, |
RCV000490298 | SCV000267378 | uncertain significance | Cone dystrophy with supernormal rod response | 2016-03-18 | criteria provided, single submitter | reference population | |
Mendelics | RCV000988139 | SCV001137739 | benign | Cone dystrophy 3 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000490298 | SCV001330119 | benign | Cone dystrophy with supernormal rod response | 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 rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Invitae | RCV000132690 | SCV001717480 | benign | not provided | 2024-01-23 | criteria provided, single submitter | clinical testing | |
Department of Ophthalmology and Visual Sciences Kyoto University | RCV000132690 | SCV000172643 | probable-non-pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Likely benign. |