Submissions for variant NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu)

gnomAD frequency: 0.00046  dbSNP: rs142304943

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000868818	SCV001010193	benign	Fanconi anemia	2024-01-18	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000868818	SCV002534207	likely benign	Fanconi anemia	2020-11-06	criteria provided, single submitter	curation
Ambry Genetics	RCV002409068	SCV002719216	uncertain significance	Inborn genetic diseases	2022-06-24	criteria provided, single submitter	clinical testing	The c.1067C>T (p.S356L) alteration is located in exon 4 (coding exon 2) of the FANCB gene. This alteration results from a C to T substitution at nucleotide position 1067, causing the serine (S) at amino acid position 356 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics	RCV002495286	SCV002798782	likely benign	Fanconi anemia complementation group B; VACTERL association, X-linked, with or without hydrocephalus	2021-07-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965726	SCV004784749	likely benign	FANCB-related disorder	2022-07-07	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).