Submissions for variant NM_018062.4(FANCL):c.112C>T (p.Leu38Phe)

gnomAD frequency: 0.00322  dbSNP: rs55849827

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082870	SCV000262269	benign	Fanconi anemia	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000515051	SCV000521275	likely benign	not provided	2020-01-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27153395, 24459294)
Genetic Services Laboratory, University of Chicago	RCV000420428	SCV000594735	benign	not specified	2021-06-24	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000515051	SCV000610639	likely benign	not provided	2017-05-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001137465	SCV001297406	benign	Fanconi anemia complementation group L	2018-03-08	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000515051	SCV002011558	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000515051	SCV002063865	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	FANCL: BP4, BS2
Sema4, Sema4	RCV001082870	SCV002527275	likely benign	Fanconi anemia	2021-06-19	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001137465	SCV004015683	benign	Fanconi anemia complementation group L	2023-07-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003937791	SCV004756725	likely benign	FANCL-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).