Submissions for variant NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr)

gnomAD frequency: 0.00163  dbSNP: rs74977201

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000463871	SCV000558867	likely benign	Fanconi anemia	2025-01-09	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001292767	SCV001481413	uncertain significance	Fanconi anemia complementation group A	2020-09-18	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV002475905	SCV002774151	likely benign	not provided	2022-09-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002525658	SCV003712303	likely benign	Inborn genetic diseases	2024-10-05	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mayo Clinic Laboratories, Mayo Clinic	RCV002475905	SCV004224275	uncertain significance	not provided	2022-12-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003960075	SCV004782877	likely benign	FANCA-related disorder	2019-09-20	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).