Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Genomic Medicine |
RCV000736092 | SCV000864359 | likely benign | not specified | 2017-07-17 | criteria provided, single submitter | clinical testing | BS1, BP4; This alteration has an allele frequency that is greater than expected for the associated disease, and is predicted to be tolerated by multiple functional prediction tools. |
Invitae | RCV000879550 | SCV001022587 | benign | not provided | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001099413 | SCV001255868 | 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). 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. |
Genetic Services Laboratory, |
RCV000736092 | SCV002066441 | benign | not specified | 2020-03-06 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002294379 | SCV002587503 | likely benign | Kidney disorder | 2017-11-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446418 | SCV004172561 | likely benign | CFHR5 deficiency | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000879550 | SCV001954085 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000879550 | SCV001973368 | likely benign | not provided | no assertion criteria provided | clinical testing |