Submissions for variant NM_032444.4(SLX4):c.2047G>A (p.Ala683Thr)

gnomAD frequency: 0.00092  dbSNP: rs115866745

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000477483	SCV000558663	likely benign	Fanconi anemia	2025-01-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821336	SCV002068015	uncertain significance	not specified	2018-03-06	criteria provided, single submitter	clinical testing
GeneDx	RCV002221543	SCV002498937	uncertain significance	not provided	2021-10-11	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Sema4, Sema4	RCV000477483	SCV002529286	likely benign	Fanconi anemia	2021-12-21	criteria provided, single submitter	curation
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV005230423	SCV005875643	likely benign	Fanconi anemia complementation group P	2024-06-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004745411	SCV005353955	likely benign	SLX4-related disorder	2024-05-30	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).