Submissions for variant NM_021922.3(FANCE):c.387A>C (p.Pro129=)

dbSNP: rs4713867

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000246343	SCV000313809	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000860093	SCV000462661	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000246343	SCV000603579	benign	not specified	2016-08-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000860093	SCV001000015	benign	Fanconi anemia complementation group E	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001194799	SCV001863518	benign	not provided	2019-01-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000860093	SCV001933152	benign	Fanconi anemia complementation group E	2021-08-10	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000860093	SCV004017665	benign	Fanconi anemia complementation group E	2023-07-07	criteria provided, single submitter	clinical testing
Leiden Open Variation Database	RCV001194799	SCV001364595	uncertain significance	not provided	2011-02-07	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.