Submissions for variant NM_001018115.3(FANCD2):c.3558C>G (p.Leu1186=)

gnomAD frequency: 0.00001  dbSNP: rs745765337

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000504384	SCV000594694	uncertain significance	not specified	2015-09-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001145655	SCV001306346	uncertain significance	Fanconi anemia complementation group D2	2017-04-28	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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae	RCV001436216	SCV001639052	likely benign	Fanconi anemia	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003457712	SCV004184384	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	FANCD2: BP4, BP7