Submissions for variant NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu)

gnomAD frequency: 0.19295  dbSNP: rs3864017

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000120989	SCV000305866	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094876	SCV000439587	benign	Fanconi anemia complementation group D2	2018-01-12	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	RCV000120989	SCV000603566	benign	not specified	2016-10-10	criteria provided, single submitter	clinical testing
Invitae	RCV000372215	SCV000752015	benign	Fanconi anemia	2024-02-01	criteria provided, single submitter	clinical testing
Mendelics	RCV000987103	SCV001136301	benign	Fanconi anemia complementation group A	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001705892	SCV001901112	benign	not provided	2019-03-01	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30250602)
Genome-Nilou Lab	RCV001094876	SCV001933108	benign	Fanconi anemia complementation group D2	2021-08-10	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000120989	SCV002050736	likely benign	not specified	2021-12-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000120989	SCV002070982	benign	not specified	2020-06-12	criteria provided, single submitter	clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	RCV002225377	SCV002505221	benign	Hereditary breast ovarian cancer syndrome	2022-04-19	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000372215	SCV002529486	benign	Fanconi anemia	2019-12-09	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001094876	SCV004017632	benign	Fanconi anemia complementation group D2	2023-07-07	criteria provided, single submitter	clinical testing
ITMI	RCV000120989	SCV000085157	not provided	not specified	2013-09-19	no assertion provided	reference population