Submissions for variant NM_001113378.2(FANCI):c.2997C>T (p.Ser999=)

gnomAD frequency: 0.00248  dbSNP: rs138675752

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000229685	SCV000285895	benign	Fanconi anemia	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000247675	SCV000306645	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094317	SCV000394217	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	RCV000247675	SCV000594720	likely benign	not specified	2016-10-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001569204	SCV001793237	likely benign	not provided	2021-06-14	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000247675	SCV002050922	benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001569204	SCV002063441	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	FANCI: BP4, BP7, BS2
Sema4, Sema4	RCV000229685	SCV002529833	likely benign	Fanconi anemia	2020-11-19	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV001094317	SCV002802279	benign	Fanconi anemia complementation group I	2021-08-18	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001569204	SCV001809613	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001569204	SCV001968695	likely benign	not provided		no assertion criteria provided	clinical testing