Submissions for variant NM_030787.4(CFHR5):c.136C>T (p.Pro46Ser)

gnomAD frequency: 0.01068  dbSNP: rs12097550

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000955827	SCV001102559	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001097651	SCV001253949	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.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294422	SCV002587683	likely benign	Atypical hemolytic-uremic syndrome	2020-10-09	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002502971	SCV002808376	likely benign	CFHR5 deficiency	2021-09-16	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002502971	SCV004177481	likely benign	CFHR5 deficiency	2023-04-11	criteria provided, single submitter	clinical testing