Submissions for variant NM_000135.4(FANCA):c.755A>G (p.Asp252Gly)

gnomAD frequency: 0.01851  dbSNP: rs17225943

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000120966	SCV000302508	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094266	SCV000399877	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV000268674	SCV000558893	benign	Fanconi anemia	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001705890	SCV001860766	benign	not provided	2019-07-25	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000120966	SCV002046819	benign	not specified	2021-03-30	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001094266	SCV004017570	benign	Fanconi anemia complementation group A	2023-07-07	criteria provided, single submitter	clinical testing
ITMI	RCV000120966	SCV000085134	not provided	not specified	2013-09-19	no assertion provided	reference population
Natera, Inc.	RCV001094266	SCV001459004	benign	Fanconi anemia complementation group A	2020-09-16	no assertion criteria provided	clinical testing