Submissions for variant NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile)

gnomAD frequency: 0.02526  dbSNP: rs17227354

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000120948	SCV000302498	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625424	SCV000399817	likely 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV000270548	SCV000558878	benign	Fanconi anemia	2024-02-01	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625424	SCV000745332	benign	Fanconi anemia complementation group A	2014-10-20	criteria provided, single submitter	clinical testing
GeneDx	RCV001719883	SCV001947346	benign	not provided	2019-04-24	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000120948	SCV002046808	benign	not specified	2021-04-01	criteria provided, single submitter	clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University	RCV003153391	SCV003843317	benign	Ovarian cancer	2022-01-01	criteria provided, single submitter	clinical testing
ITMI	RCV000120948	SCV000085116	not provided	not specified	2013-09-19	no assertion provided	reference population
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000625424	SCV000745885	benign	Fanconi anemia complementation group A	2016-04-06	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000625424	SCV001458748	benign	Fanconi anemia complementation group A	2020-09-16	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000120948	SCV001798815	benign	not specified		no assertion criteria provided	clinical testing