Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000086001 | SCV000575196 | likely benign | not provided | 2018-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001089193 | SCV001098320 | likely benign | Leber congenital amaurosis 7; Cone-rod dystrophy 2 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000990235 | SCV001141112 | uncertain significance | Leber congenital amaurosis 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001131568 | SCV001291195 | benign | Cone-rod dystrophy 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV000787829 | SCV001291196 | 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001131569 | SCV001291197 | uncertain significance | Leber congenital amaurosis 7 | 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Gene |
RCV000086001 | SCV001943555 | likely benign | not provided | 2018-12-13 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24265693, 16123401, 27884173, 27668495, 26355662) |
Retina International | RCV000086001 | SCV000118144 | not provided | not provided | no assertion provided | not provided | ||
Department of Clinical Genetics, |
RCV000787829 | SCV000926842 | uncertain significance | Retinitis pigmentosa | 2018-04-01 | no assertion criteria provided | research | |
Faculty of Health Sciences, |
RCV001257854 | SCV001434621 | pathogenic | Autosomal dominant retinitis pigmentosa | 2015-09-10 | no assertion criteria provided | literature only |