Total submissions: 17
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174188 | SCV000225449 | benign | not specified | 2015-02-16 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000292400 | SCV000352878 | likely benign | Leber congenital amaurosis 8 | 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV000351445 | SCV000352879 | likely benign | 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV000400954 | SCV000352880 | likely benign | Pigmented paravenous retinochoroidal atrophy | 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Invitae | RCV001080373 | SCV001020566 | benign | Retinitis pigmentosa 12; Leber congenital amaurosis 8 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000986498 | SCV001135510 | likely benign | Leber congenital amaurosis 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000086352 | SCV001147585 | likely benign | not provided | 2020-05-01 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000086352 | SCV001474313 | benign | not provided | 2020-02-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000292400 | SCV001748640 | benign | Leber congenital amaurosis 8 | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000400954 | SCV001748641 | benign | Pigmented paravenous retinochoroidal atrophy | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001532870 | SCV001748642 | benign | Retinitis pigmentosa 12 | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000086352 | SCV001834784 | likely benign | not provided | 2018-12-14 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 12843338, 17964524, 16123401, 24811962, 22065545, 18055816, 11231775, 15459956, 11389483) |
Prevention |
RCV003925094 | SCV004739819 | benign | CRB1-related condition | 2020-04-21 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Retina International | RCV000086352 | SCV000118498 | not provided | not provided | no assertion provided | not provided | ||
Natera, |
RCV001271906 | SCV001453400 | likely benign | Leber congenital amaurosis | 2020-05-08 | no assertion criteria provided | clinical testing | |
Clinical Genetics, |
RCV000086352 | SCV001924753 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000086352 | SCV001970460 | likely benign | not provided | no assertion criteria provided | clinical testing |