Submissions for variant NM_000204.5(CFI):c.1534+5G>T

gnomAD frequency: 0.00951  dbSNP: rs114013791

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000238664	SCV000296883	benign	not specified	2015-11-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000987463	SCV000446863	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). 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000238664	SCV000538668	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 130/13004=0.99%: in th eEur: 130/8598=1.5%
GeneDx	RCV000238664	SCV000730657	likely benign	not specified	2017-01-06	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000954626	SCV001101271	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000987463	SCV001136758	likely benign	Atypical hemolytic-uremic syndrome with I factor anomaly	2019-05-28	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294095	SCV002587689	benign	Atypical hemolytic-uremic syndrome	2020-03-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002500839	SCV002811392	likely benign	Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency	2021-10-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000954626	SCV002821266	benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	CFI: BS1, BS2; ENSG00000285330: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003920000	SCV004739044	likely benign	CFI-related condition	2020-05-26	criteria provided, single submitter	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).