Submissions for variant NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser)

gnomAD frequency: 0.00815  dbSNP: rs139017763

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000438250	SCV000511427	benign	not provided	2016-12-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000438250	SCV001110049	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001097729	SCV001254037	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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genetic Services Laboratory, University of Chicago	RCV001821153	SCV002066463	likely benign	not specified	2017-12-26	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294327	SCV002587608	benign	Atypical hemolytic-uremic syndrome	2022-07-08	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002488868	SCV002795408	benign	CFHR5 deficiency	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002488868	SCV004177506	likely benign	CFHR5 deficiency	2023-04-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000438250	SCV005260956	likely benign	not provided		criteria provided, single submitter	not provided