Submissions for variant NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu)

gnomAD frequency: 0.00341  dbSNP: rs45441106

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000227911	SCV000283550	benign	Fanconi anemia	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000120926	SCV000302476	likely benign	not specified		criteria provided, single submitter	clinical testing
Counsyl	RCV000674807	SCV000800206	likely benign	Fanconi anemia complementation group A	2018-05-24	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000120926	SCV002046971	benign	not specified	2021-04-23	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000120926	SCV002065255	benign	not specified	2021-04-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001800408	SCV002107254	likely benign	not provided	2021-05-26	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28678401)
Sema4, Sema4	RCV000227911	SCV002534941	likely benign	Fanconi anemia	2021-07-03	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000674807	SCV004017561	benign	Fanconi anemia complementation group A	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001800408	SCV004143609	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	FANCA: BS1
ITMI	RCV000120926	SCV000085094	not provided	not specified	2013-09-19	no assertion provided	reference population
Natera, Inc.	RCV000674807	SCV001462947	likely benign	Fanconi anemia complementation group A	2020-01-08	no assertion criteria provided	clinical testing