Submissions for variant NM_000135.4(FANCA):c.3348+18A>G

gnomAD frequency: 0.02828  dbSNP: rs1800347

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248216	SCV000302489	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000248216	SCV000603557	benign	not specified	2017-02-17	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000513957	SCV000610654	likely benign	not provided	2017-10-03	criteria provided, single submitter	clinical testing
Invitae	RCV001521504	SCV001730861	benign	Fanconi anemia	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001256618	SCV001754615	benign	Fanconi anemia complementation group A	2021-07-08	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001521504	SCV002534995	benign	Fanconi anemia	2020-07-07	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001256618	SCV004017542	benign	Fanconi anemia complementation group A	2023-07-07	criteria provided, single submitter	clinical testing
Leiden Open Variation Database	RCV001256618	SCV001426114	uncertain significance	Fanconi anemia complementation group A	2020-02-28	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.
Natera, Inc.	RCV001521504	SCV002092537	benign	Fanconi anemia	2019-10-28	no assertion criteria provided	clinical testing