Submissions for variant NM_002025.4(AFF2):c.2780G>A (p.Arg927His)

gnomAD frequency: 0.00036  dbSNP: rs140927355

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174514	SCV000225826	likely benign	not specified	2015-07-20	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000174514	SCV000593058	likely benign	not specified	2016-01-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000872541	SCV001014370	likely benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000990960	SCV001142033	likely benign	FRAXE	2019-05-28	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000990960	SCV002806132	likely benign	FRAXE	2022-01-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000872541	SCV004166200	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	AFF2: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000872541	SCV005206831	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003975275	SCV004792576	likely benign	AFF2-related disorder	2021-05-20	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).