Submissions for variant NM_001018115.3(FANCD2):c.516A>G (p.Ile172Met)

gnomAD frequency: 0.02009  dbSNP: rs35173688

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000226716	SCV000291163	benign	Fanconi anemia	2025-01-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094771	SCV000439464	benign	Fanconi anemia complementation group D2	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.
GeneDx	RCV001572786	SCV001904672	benign	not provided	2019-04-03	criteria provided, single submitter	clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	RCV002225380	SCV002505184	benign	Hereditary breast ovarian cancer syndrome	2022-04-19	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001094771	SCV004017647	benign	Fanconi anemia complementation group D2	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001572786	SCV005238706	benign	not provided		criteria provided, single submitter	not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001094771	SCV005875766	benign	Fanconi anemia complementation group D2	2024-09-12	criteria provided, single submitter	clinical testing
ITMI	RCV000121001	SCV000085169	not provided	not specified	2013-09-19	no assertion provided	reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572786	SCV001797689	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000121001	SCV001808337	benign	not specified		no assertion criteria provided	clinical testing