Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000354801 | SCV000352384 | benign | CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II | 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, |
RCV000267123 | SCV000352385 | benign | Age related macular degeneration 4 | 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, |
RCV000305955 | SCV000352386 | benign | Basal laminar drusen | 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, |
RCV000358116 | SCV000352387 | benign | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 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. |
Labcorp Genetics |
RCV001521609 | SCV001730979 | benign | not provided | 2025-02-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000305955 | SCV001806634 | benign | Basal laminar drusen | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001579192 | SCV001806635 | benign | Factor H deficiency | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000358116 | SCV001806636 | benign | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000267123 | SCV001806637 | benign | Age related macular degeneration 4 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001521609 | SCV001950712 | benign | not provided | 2021-05-04 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 18421087, 15870199) |
Genome Diagnostics Laboratory, |
RCV002294224 | SCV002587570 | benign | Atypical hemolytic-uremic syndrome | 2022-10-05 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001521609 | SCV005285378 | benign | not provided | criteria provided, single submitter | not provided |