Submissions for variant NM_001113378.2(FANCI):c.3592-8T>C

gnomAD frequency: 0.00200  dbSNP: rs185599057

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000230437	SCV000285901	benign	Fanconi anemia	2024-01-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000244630	SCV000306647	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001121120	SCV001279672	likely benign	Fanconi anemia complementation group I	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genetic Services Laboratory, University of Chicago	RCV000244630	SCV002069548	likely benign	not specified	2021-11-29	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000230437	SCV002529846	likely benign	Fanconi anemia	2020-12-10	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV001121120	SCV002801271	likely benign	Fanconi anemia complementation group I	2021-08-02	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001121120	SCV004015672	benign	Fanconi anemia complementation group I	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001723817	SCV004137609	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	FANCI: BP4, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000244630	SCV001807986	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000244630	SCV001932979	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723817	SCV001955018	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001723817	SCV001975503	likely benign	not provided		no assertion criteria provided	clinical testing