ClinVar Miner

Submissions for variant NM_030787.4(CFHR5):c.254-5C>T

gnomAD frequency: 0.00378  dbSNP: rs185709089
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 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, Illumina 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, University of Chicago RCV000736092 SCV002066441 benign not specified 2020-03-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294379 SCV002587503 likely benign Kidney disorder 2017-11-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446418 SCV004172561 likely benign CFHR5 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000879550 SCV001954085 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000879550 SCV001973368 likely benign not provided no assertion criteria provided clinical testing

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