Submissions for variant NM_000204.5(CFI):c.782G>A (p.Gly261Asp)

gnomAD frequency: 0.00153  dbSNP: rs112534524

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000055784	SCV000446883	likely benign	Atypical hemolytic-uremic syndrome with I factor anomaly	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000892174	SCV001036036	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Cavalleri Lab, Royal College of Surgeons in Ireland	RCV001171354	SCV001328301	likely benign	Chronic kidney disease	2020-05-28	criteria provided, single submitter	research	PP3, BP6, BS1
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294012	SCV002587674	likely benign	Atypical hemolytic-uremic syndrome	2021-01-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496740	SCV002810046	likely benign	Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency	2022-04-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000892174	SCV004148684	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	CFI: BP4
Breakthrough Genomics, Breakthrough Genomics	RCV000892174	SCV005263061	likely benign	not provided		criteria provided, single submitter	not provided
GeneReviews	RCV000055784	SCV000086750	not provided	Atypical hemolytic-uremic syndrome with I factor anomaly		no assertion provided	literature only
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000892174	SCV001927386	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000892174	SCV001952346	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537251	SCV004749183	likely benign	CFI-related disorder	2023-06-07	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).