Submissions for variant NM_001113378.2(FANCI):c.753C>T (p.Asp251=)

gnomAD frequency: 0.00124  dbSNP: rs151169233

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000233693	SCV000285905	likely benign	Fanconi anemia	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094367	SCV000394183	uncertain significance	Fanconi anemia complementation group I	2018-01-13	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV001572978	SCV001827182	likely benign	not provided	2021-05-13	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000233693	SCV002532082	likely benign	Fanconi anemia	2021-02-25	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV001572978	SCV004137595	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	FANCI: BP4, BP7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572978	SCV001798185	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001572978	SCV001809604	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001572978	SCV001975409	likely benign	not provided		no assertion criteria provided	clinical testing