ClinVar Miner

Submissions for variant NM_030787.4(CFHR5):c.429T>C (p.Thr143=)

gnomAD frequency: 0.00665  dbSNP: rs140215003
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000376793 SCV000352556 benign CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000883968 SCV001027313 benign not provided 2024-12-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001726093 SCV002068900 benign not specified 2018-10-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294243 SCV002587428 likely benign Kidney disorder 2018-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494913 SCV002795938 benign CFHR5 deficiency 2021-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002494913 SCV004177490 benign CFHR5 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000883968 SCV005287422 benign not provided criteria provided, single submitter not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000883968 SCV001959080 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726093 SCV001963830 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000883968 SCV001978430 likely benign not provided no assertion criteria provided clinical testing

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