Submissions for variant NM_021922.3(FANCE):c.611C>T (p.Ser204Leu)

gnomAD frequency: 0.03770  dbSNP: rs7761870

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000121007	SCV000313810	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000467840	SCV000462664	benign	Fanconi anemia complementation group E	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000467840	SCV000558845	benign	Fanconi anemia complementation group E	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001194802	SCV001831765	benign	not provided	2019-03-20	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV001194802	SCV002011418	likely benign	not provided	2021-11-03	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000467840	SCV004017669	benign	Fanconi anemia complementation group E	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001194802	SCV005225744	likely benign	not provided		criteria provided, single submitter	not provided
ITMI	RCV000121007	SCV000085175	not provided	not specified	2013-09-19	no assertion provided	reference population
Leiden Open Variation Database	RCV001194802	SCV001364599	uncertain significance	not provided	2011-02-07	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001194802	SCV001797554	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000121007	SCV001809109	benign	not specified		no assertion criteria provided	clinical testing