Submissions for variant NM_030787.4(CFHR5):c.732C>T (p.Asn244=)

gnomAD frequency: 0.00250  dbSNP: rs41306229

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000885964	SCV001029445	benign	not provided	2025-01-06	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001095945	SCV001252125	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294397	SCV002587631	likely benign	Atypical hemolytic-uremic syndrome	2021-11-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003454929	SCV004177503	benign	CFHR5 deficiency	2023-04-11	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000885964	SCV001926449	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000885964	SCV001956224	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000885964	SCV001970054	likely benign	not provided		no assertion criteria provided	clinical testing