Submissions for variant NM_021922.3(FANCE):c.1071C>T (p.Leu357=)

gnomAD frequency: 0.02388  dbSNP: rs3823434

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251793	SCV000313805	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000456346	SCV000462670	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	RCV000456346	SCV000558838	benign	Fanconi anemia complementation group E	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001194810	SCV001910311	benign	not provided	2019-01-14	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000456346	SCV004017670	benign	Fanconi anemia complementation group E	2023-07-07	criteria provided, single submitter	clinical testing
Leiden Open Variation Database	RCV001194810	SCV001364607	uncertain significance	not provided	2011-02-07	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.