Submissions for variant NM_000135.4(FANCA):c.3538G>A (p.Val1180Met)

gnomAD frequency: 0.00001  dbSNP: rs372706571

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000120943	SCV000594632	likely benign	not specified	2016-01-07	criteria provided, single submitter	clinical testing
Invitae	RCV000869827	SCV001011286	benign	Fanconi anemia	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001115380	SCV001273352	likely benign	Fanconi anemia complementation group A	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). 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.
Fulgent Genetics, Fulgent Genetics	RCV001115380	SCV002797414	likely benign	Fanconi anemia complementation group A	2021-08-09	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001115380	SCV004017589	likely benign	Fanconi anemia complementation group A	2023-07-07	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003477507	SCV004218568	benign	not provided	2023-01-30	criteria provided, single submitter	clinical testing
ITMI	RCV000120943	SCV000085111	not provided	not specified	2013-09-19	no assertion provided	reference population