Submissions for variant NM_000135.4(FANCA):c.80-13C>T

gnomAD frequency: 0.00110  dbSNP: rs189841793

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000122402	SCV000302510	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001120659	SCV001279159	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001513153	SCV001720702	benign	Fanconi anemia	2025-01-23	criteria provided, single submitter	clinical testing
GeneDx	RCV002055375	SCV002496279	likely benign	not provided	2021-04-28	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001513153	SCV002535077	likely benign	Fanconi anemia	2021-03-18	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001120659	SCV004017526	likely benign	Fanconi anemia complementation group A	2023-07-07	criteria provided, single submitter	clinical testing
ITMI	RCV000122402	SCV000083953	not provided	not specified	2013-09-19	no assertion provided	reference population