Submissions for variant NM_001018113.3(FANCB):c.1105-26TATT[7]

dbSNP: rs398123537

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000200154	SCV000252736	benign	Fanconi anemia	2025-01-26	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000153229	SCV000594668	likely benign	not specified	2016-03-16	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000200154	SCV002534212	benign	Fanconi anemia	2020-09-29	criteria provided, single submitter	curation
Ambry Genetics	RCV002426730	SCV002743167	benign	Inborn genetic diseases	2014-09-30	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV005229984	SCV005876593	likely benign	Fanconi anemia complementation group B	2024-02-29	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000153229	SCV000202703	benign	not specified	2014-03-19	no assertion criteria provided	clinical testing