Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000173796 | SCV000224948 | benign | not specified | 2014-05-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000332568 | SCV000372781 | likely benign | Autosomal dominant vitreoretinochoroidopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000368515 | SCV000372782 | likely benign | Retinitis Pigmentosa, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000263285 | SCV000372783 | likely benign | Vitelliform macular dystrophy 2 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000311168 | SCV000483284 | likely benign | Iron Overload | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000970229 | SCV001117798 | benign | not provided | 2025-01-23 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000263285 | SCV001138335 | benign | Vitelliform macular dystrophy 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001105411 | SCV001262372 | 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. |
Gene |
RCV000970229 | SCV001864716 | benign | not provided | 2019-05-06 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 21273940) |
Breakthrough Genomics, |
RCV000970229 | SCV005224412 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Clinical Genetics, |
RCV000173796 | SCV001921564 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000970229 | SCV001969776 | likely benign | not provided | no assertion criteria provided | clinical testing |