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

gnomAD frequency: 0.00665  dbSNP: rs140215003

Total submissions: 10

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