Submissions for variant NM_000135.4(FANCA):c.1826+12C>T

gnomAD frequency: 0.00518  dbSNP: rs183513839

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000195264	SCV000247337	likely benign	not specified	2015-07-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000195264	SCV000302467	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001120467	SCV001278951	benign	Fanconi anemia complementation group A	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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Invitae	RCV001515918	SCV001724100	benign	Fanconi anemia	2024-01-31	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001515918	SCV002534927	benign	Fanconi anemia	2021-07-13	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001120467	SCV004017576	likely benign	Fanconi anemia complementation group A	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003422094	SCV004143611	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	FANCA: BS2