Submissions for variant NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu)

gnomAD frequency: 0.00083  dbSNP: rs147017625

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000226225	SCV000283564	benign	Fanconi anemia	2024-01-24	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000120941	SCV002065155	uncertain significance	not specified	2018-01-19	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000226225	SCV002535011	likely benign	Fanconi anemia	2021-05-10	criteria provided, single submitter	curation
Baylor Genetics	RCV003147340	SCV003835076	uncertain significance	Fanconi anemia complementation group A	2021-04-14	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003477506	SCV004218566	likely benign	not provided	2022-03-22	criteria provided, single submitter	clinical testing
ITMI	RCV000120941	SCV000085109	not provided	not specified	2013-09-19	no assertion provided	reference population
Molecular Oncology - Human Genetics Lab, University of Sao Paulo	RCV001843480	SCV002103118	likely pathogenic	Hepatoblastoma		no assertion criteria provided	research
PreventionGenetics, part of Exact Sciences	RCV003935154	SCV004765775	likely benign	FANCA-related disorder	2022-06-12	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).