Submissions for variant NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=)

gnomAD frequency: 0.00869  dbSNP: rs55980657

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000472960	SCV000558525	benign	Fanconi anemia	2024-01-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000502408	SCV000594690	benign	not specified	2021-11-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000502408	SCV000603578	benign	not specified	2017-04-04	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001149874	SCV001310873	likely benign	Fanconi anemia complementation group D2	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV001731702	SCV001982336	likely benign	not provided	2020-12-11	criteria provided, single submitter	clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	RCV002225628	SCV002505224	benign	Hereditary breast ovarian cancer syndrome	2022-04-19	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001149874	SCV002813750	likely benign	Fanconi anemia complementation group D2	2022-05-18	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001149874	SCV004017651	benign	Fanconi anemia complementation group D2	2023-07-07	criteria provided, single submitter	clinical testing