Submissions for variant NM_000204.5(CFI):c.1217G>A (p.Arg406His)

gnomAD frequency: 0.00599  dbSNP: rs74817407

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000987464	SCV000446873	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). 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Mendelics	RCV000987464	SCV001136759	benign	Atypical hemolytic-uremic syndrome with I factor anomaly	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001523507	SCV001733217	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294307	SCV002587283	benign	Focal segmental glomerulosclerosis	2022-09-09	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001523507	SCV005304350	benign	not provided		criteria provided, single submitter	not provided