Submissions for variant NM_000204.5(CFI):c.608C>T (p.Thr203Ile)

gnomAD frequency: 0.00015  dbSNP: rs138346388

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000401917	SCV000446884	benign	Atypical hemolytic-uremic syndrome with I factor anomaly	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001489688	SCV001694237	likely benign	not provided	2024-01-15	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821056	SCV002071097	likely benign	not specified	2018-04-05	criteria provided, single submitter	clinical testing
Mendelics	RCV001821056	SCV002518073	uncertain significance	not specified	2022-05-04	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294311	SCV002587664	benign	Atypical hemolytic-uremic syndrome	2020-05-01	criteria provided, single submitter	clinical testing