Submissions for variant NM_030787.4(CFHR5):c.1067G>A (p.Arg356His)

gnomAD frequency: 0.01746  dbSNP: rs35662416

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455234	SCV000538666	likely benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 272/13000=2%
Illumina Laboratory Services, Illumina	RCV001097732	SCV001254040	likely 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV001725180	SCV002415249	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001725180	SCV002504240	likely benign	not provided	2021-06-10	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294335	SCV002587559	likely benign	Atypical hemolytic-uremic syndrome	2022-03-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001725180	SCV004125178	benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	CFHR5: BP4, BS1, BS2
Genome-Nilou Lab	RCV003456079	SCV004177509	likely benign	CFHR5 deficiency	2023-04-11	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000455234	SCV001932685	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001725180	SCV001959905	likely benign	not provided		no assertion criteria provided	clinical testing