Submissions for variant NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln)

gnomAD frequency: 0.00005  dbSNP: rs199967286

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001120561	SCV001279055	uncertain significance	Fanconi anemia complementation group A	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). 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	RCV001239310	SCV001412178	benign	Fanconi anemia	2024-01-06	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001120561	SCV001482542	uncertain significance	Fanconi anemia complementation group A	2020-06-05	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Sema4, Sema4	RCV001239310	SCV002534904	uncertain significance	Fanconi anemia	2021-07-12	criteria provided, single submitter	curation
ITMI	RCV000120914	SCV000085082	not provided	not specified	2013-09-19	no assertion provided	reference population
Natera, Inc.	RCV001239310	SCV002095072	uncertain significance	Fanconi anemia	2020-02-21	no assertion criteria provided	clinical testing