Submissions for variant NM_032444.4(SLX4):c.2290C>G (p.Pro764Ala)

gnomAD frequency: 0.00218  dbSNP: rs151105762

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000558751	SCV000626407	likely benign	Fanconi anemia	2025-01-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821488	SCV002067655	benign	not specified	2021-02-15	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000558751	SCV002529296	likely benign	Fanconi anemia	2020-10-09	criteria provided, single submitter	curation
GeneDx	RCV003156249	SCV003845912	uncertain significance	not provided	2022-09-26	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Identified in a patient with oropharyngeal cancer who did not have features of Fanconi anemia (PMID: 28678401); This variant is associated with the following publications: (PMID: 28678401)
Breakthrough Genomics, Breakthrough Genomics	RCV003156249	SCV005215147	likely benign	not provided		criteria provided, single submitter	not provided
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV005235382	SCV005881316	benign	Fanconi anemia complementation group P	2025-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915485	SCV004734657	likely benign	SLX4-related disorder	2019-10-14	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).